(Q37720436)

22 August 2017

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title

RNA processing pathways in amyotrophic lateral sclerosis (English)

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amyotrophic lateral sclerosis

22 August 2017

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author

Marka van Blitterswijk

series ordinal

1

object named as

Marka van Blitterswijk

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John E Landers

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2

object named as

John E Landers

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22 August 2017

27 March 2010

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22 August 2017

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22 August 2017

11

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22 August 2017

3

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22 August 2017

275-290

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https://scigraph.springernature.com/pub.10.1007/s10048-010-0239-4

22 August 2017

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cites work

Kinesin II mediates Vg1 mRNA transport in Xenopus oocytes

1 reference

https://api.crossref.org/works/10.1007%2FS10048-010-0239-4

Axonal transport and neurodegenerative disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-010-0239-4

Flow cytometric evaluation of Vibrio parahaemolyticus adhesion inhibition to human epithelial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-010-0239-4

Mutant copper-zinc superoxide dismutase binds to and destabilizes human low molecular weight neurofilament mRNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-010-0239-4

A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-010-0239-4

Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-010-0239-4

Co-morbidity of TDP-43 proteinopathy in Lewy body related diseases.

21 January 2018

1 reference

12 December 2020

The widespread expression of angiogenin in different human cells suggests a biological function not only related to angiogenesis

1 reference

12 December 2020

Control of motoneuron survival by angiogenin.

1 reference

12 December 2020

Angiogenin protects motoneurons against hypoxic injury.

1 reference

12 December 2020

RNA oxidation: a contributing factor or an epiphenomenon in the process of neurodegeneration

1 reference

12 December 2020

Cytoplasmic mislocalization of TDP-43 is toxic to neurons and enhanced by a mutation associated with familial amyotrophic lateral sclerosis

1 reference

12 December 2020

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

1 reference

12 December 2020

Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo

1 reference

12 December 2020

Stirring up development with the heterotrimeric kinesin KIF3.

1 reference

12 December 2020

Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration

1 reference

12 December 2020

An early step in wobble uridine tRNA modification requires the Elongator complex

1 reference

12 December 2020

Coilin forms the bridge between Cajal bodies and SMN, the spinal muscular atrophy protein

1 reference

12 December 2020

hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing

1 reference

12 December 2020

Dominant expression of angiogenin in NeuN positive cells in the focal ischemic rat brain

1 reference

12 December 2020

Amyotrophic lateral sclerosis in Sweden, 1991-2005.

1 reference

12 December 2020

Identification of hnRNP P2 as TLS/FUS using electrospray mass spectrometry.

1 reference

12 December 2020

Identification and characterisation of a large senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2).

1 reference

12 December 2020

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis

1 reference

12 December 2020

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

1 reference

12 December 2020

Biomarkers in amyotrophic lateral sclerosis

1 reference

12 December 2020

A novel nuclear structure containing the survival of motor neurons protein

1 reference

12 December 2020

TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease

1 reference

12 December 2020

Dephosphorylation of survival motor neurons (SMN) by PPM1G/PP2Cgamma governs Cajal body localization and stability of the SMN complex

1 reference

12 December 2020

1 reference

12 December 2020

RecQ helicases: caretakers of the genome

1 reference

12 December 2020

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo

1 reference

12 December 2020

A novel effector domain from the RNA-binding protein TLS or EWS is required for oncogenic transformation by CHOP

1 reference

12 December 2020

hnRNP complexes: composition, structure, and function

1 reference

12 December 2020

Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery

1 reference

12 December 2020

Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis

1 reference

12 December 2020

Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS

1 reference

12 December 2020

Pathological TDP-43 in parkinsonism-dementia complex and amyotrophic lateral sclerosis of Guam

1 reference

12 December 2020

A 5-micron-bright spot on Titan: evidence for surface diversity

1 reference

12 December 2020

Endogenous angiogenin in endothelial cells is a general requirement for cell proliferation and angiogenesis

1 reference

12 December 2020

Tar DNA binding protein of 43 kDa (TDP-43), 14-3-3 proteins and copper/zinc superoxide dismutase (SOD1) interact to modulate NFL mRNA stability. Implications for altered RNA processing in amyotrophic lateral sclerosis (ALS).

1 reference

12 December 2020

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

1 reference

12 December 2020

Serum angiogenin levels in children and adolescents with insulin-dependent diabetes mellitus.

1 reference

12 December 2020

SMN protects cells against mutant SOD1 toxicity by increasing chaperone activity

1 reference

12 December 2020

Progranulin mutations in ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.

1 reference

12 December 2020

Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage

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12 December 2020

A new role for angiogenin in neurite growth and pathfinding: implications for amyotrophic lateral sclerosis

1 reference

12 December 2020

Gcn5- and Elp3-induced histone H3 acetylation regulates hsp70 gene transcription in yeast

1 reference

12 December 2020

Proto-oncoprotein TLS/FUS is associated to the nuclear matrix and complexed with splicing factors PTB, SRm160, and SR proteins

1 reference

12 December 2020

Human mast cells synthesize and release angiogenin, a member of the ribonuclease A (RNase A) superfamily

1 reference

12 December 2020

Interaction of amyotrophic lateral sclerosis (ALS)-related mutant copper-zinc superoxide dismutase with the dynein-dynactin complex contributes to inclusion formation

1 reference

12 December 2020

Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

1 reference

12 December 2020

Variation at GRN 3'-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population.

1 reference

12 December 2020

SMN oligomerization defect correlates with spinal muscular atrophy severity

1 reference

12 December 2020

A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation.

1 reference

12 December 2020

Concurrence of TDP-43, tau and alpha-synuclein pathology in brains of Alzheimer's disease and dementia with Lewy bodies

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12 December 2020

Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation.

1 reference

12 December 2020

Movement of eukaryotic mRNAs between polysomes and cytoplasmic processing bodies

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12 December 2020

Structural determinants of the cellular localization and shuttling of TDP-43.

1 reference

12 December 2020

The nuclear function of angiogenin in endothelial cells is related to rRNA production

1 reference

12 December 2020

TDP43 is a human low molecular weight neurofilament (hNFL) mRNA-binding protein

1 reference

12 December 2020

p190RhoGEF Binds to a destabilizing element in the 3' untranslated region of light neurofilament subunit mRNA and alters the stability of the transcript

1 reference

12 December 2020

Stress induces tRNA cleavage by angiogenin in mammalian cells

1 reference

12 December 2020

Genetics of familial amyotrophic lateral sclerosis

1 reference

12 December 2020

TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing

1 reference

12 December 2020

A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy

1 reference

12 December 2020

Colocalization of transactivation-responsive DNA-binding protein 43 and huntingtin in inclusions of Huntington disease

1 reference

12 December 2020

Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study.

1 reference

12 December 2020

SMN1 gene, but not SMN2, is a risk factor for sporadic ALS

1 reference

12 December 2020

A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis.

1 reference

12 December 2020

Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis.

1 reference

12 December 2020

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

1 reference

12 December 2020

Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy

1 reference

12 December 2020

TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

1 reference

12 December 2020

The SMN complex: an assembly machine for RNPs

1 reference

12 December 2020

A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy

1 reference

12 December 2020

Progranulin (PGRN) expression in ALS: an immunohistochemical study.

1 reference

12 December 2020

Angiogenin is translocated to the nucleus of HeLa cells and is involved in ribosomal RNA transcription and cell proliferation

1 reference

12 December 2020

TLS (FUS) binds RNA in vivo and engages in nucleo-cytoplasmic shuttling

1 reference

12 December 2020

Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia

1 reference

12 December 2020

Decreased expression of angiogenin in the eutopic endometrium from women with advanced stage endometriosis

1 reference

12 December 2020

Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2.

1 reference

12 December 2020

Control of axonal branching and synapse formation by focal adhesion kinase

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12 December 2020

TDP-43, the signature protein of FTLD-U, is a neuronal activity-responsive factor

1 reference

12 December 2020

Airway angiogenesis in patients with rhinitis and controlled asthma

1 reference

12 December 2020

Mutant copper-zinc superoxide dismutase associated with amyotrophic lateral sclerosis binds to adenine/uridine-rich stability elements in the vascular endothelial growth factor 3'-untranslated region

1 reference

12 December 2020

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

1 reference

12 December 2020

Genotyping pooled DNA on microarrays: a systematic genome screen of thousands of SNPs in large samples to detect QTLs for complex traits.

1 reference

12 December 2020

Multiple functional domains of the oncoproteins Spi-1/PU.1 and TLS are involved in their opposite splicing effects in erythroleukemic cells

1 reference

12 December 2020

CSF profiles of angiogenic and inflammatory factors depend on the respiratory status of ALS patients

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12 December 2020

Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis

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12 December 2020

Serum angiogenin levels predict treatment response in patients with stage IV melanoma

1 reference

12 December 2020

Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis.

1 reference

12 December 2020

Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia

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12 December 2020

Identification of an RNA binding specificity for the potential splicing factor TLS

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12 December 2020

TDP-43 is deposited in the Guam parkinsonism-dementia complex brains.

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12 December 2020

Motor neuron disease occurring in a mutant dynactin mouse model is characterized by defects in vesicular trafficking

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12 December 2020

Structural features that determine the enzymatic potency and specificity of human angiogenin: threonine-80 and residues 58-70 and 116-123

1 reference

12 December 2020

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

1 reference

12 December 2020

Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations

1 reference

12 December 2020

Differential screening of mutated SOD1 transgenic mice reveals early up-regulation of a fast axonal transport component in spinal cord motor neurons

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12 December 2020

Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43.

1 reference

12 December 2020

Mutant dynactin in motor neuron disease.

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12 December 2020

Identification of the nucleolar targeting signal of human angiogenin

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12 December 2020

Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis

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12 December 2020

Progranulin is expressed within motor neurons and promotes neuronal cell survival

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12 December 2020

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

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12 December 2020

Delocalization of the multifunctional RNA splicing factor TLS/FUS in hippocampal neurones: exclusion from the nucleus and accumulation in dendritic granules and spine heads

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12 December 2020

Evidence that TDP-43 is not the major ubiquitinated target within the pathological inclusions of amyotrophic lateral sclerosis

1 reference

12 December 2020

The multifunctional FUS, EWS and TAF15 proto-oncoproteins show cell type-specific expression patterns and involvement in cell spreading and stress response

1 reference

12 December 2020

Familial dysautonomia is caused by mutations of the IKAP gene

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12 December 2020

Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis

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12 December 2020

Neuronal RNA granules: movers and makers

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12 December 2020

Embryonic motor axon development in the severe SMA mouse

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12 December 2020

The interaction between cytoplasmic dynein and dynactin is required for fast axonal transport

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12 December 2020

RNA polymerase II elongator holoenzyme is composed of two discrete subcomplexes

1 reference

12 December 2020

Mutant SOD1 impairs axonal transport of choline acetyltransferase and acetylcholine release by sequestering KAP3

1 reference

12 December 2020

Domain architectures and characterization of an RNA-binding protein, TLS

1 reference

12 December 2020

No association of PGRN 3'UTR rs5848 in frontotemporal lobar degeneration

1 reference

12 December 2020

Circulating serum levels of cytokines and angiogenic factors in patients with cervical cancer

1 reference

12 December 2020

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

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12 December 2020

Evidence for distinct mechanisms facilitating transcript elongation through chromatin in vivo

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12 December 2020

Gene expressions specifically detected in motor neurons (dynactin 1, early growth response 3, acetyl-CoA transporter, death receptor 5, and cyclin C) differentially correlate to pathologic markers in sporadic amyotrophic lateral sclerosis

1 reference

12 December 2020

Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis

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12 December 2020

Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling

1 reference

12 December 2020

Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis

1 reference

12 December 2020

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

1 reference

12 December 2020

The survival of motor neurons (SMN) protein interacts with the snoRNP proteins fibrillarin and GAR1

1 reference

12 December 2020

Increased plasma levels of angiogenin and the risk of bladder carcinoma: from initiation ot recurrence

1 reference

12 December 2020

"Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2).

1 reference

12 December 2020

SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS

1 reference

12 December 2020

Multiple protein/protein and protein/RNA interactions suggest roles for yeast DNA/RNA helicase Sen1p in transcription, transcription-coupled DNA repair and RNA processing

1 reference

12 December 2020

Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients

1 reference

12 December 2020

Defective axonal transport of neurofilament proteins in neurons overexpressing peripherin

1 reference

12 December 2020

Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes

1 reference

12 December 2020

Intermediate filament steady-state mRNA levels in amyotrophic lateral sclerosis.

1 reference

12 December 2020

Involvement of the pro-oncoprotein TLS (translocated in liposarcoma) in nuclear factor-kappa B p65-mediated transcription as a coactivator

1 reference

12 December 2020

SMN-independent subunits of the SMN complex. Identification of a small nuclear ribonucleoprotein assembly intermediate

1 reference

12 December 2020

Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease

1 reference

12 December 2020

Proangiogenic activity in bronchoalveolar lavage fluid from patients with asthma

1 reference

12 December 2020

Differential expression of molecular motors in the motor cortex of sporadic ALS

1 reference

12 December 2020

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

1 reference

12 December 2020

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort

1 reference

12 December 2020

TLS interaction with NMDA R1 splice variant in retinal ganglion cell line RGC-5

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12 December 2020

Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs

1 reference

12 December 2020

An aggregate-inducing peripherin isoform generated through intron retention is upregulated in amyotrophic lateral sclerosis and associated with disease pathology

1 reference

12 December 2020

Elevated angiogenin levels in chronic heart failure

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12 December 2020

Messenger RNA oxidation occurs early in disease pathogenesis and promotes motor neuron degeneration in ALS

1 reference

12 December 2020

Elongator is a histone H3 and H4 acetyltransferase important for normal histone acetylation levels in vivo

1 reference

12 December 2020

Phosphorylated and cleaved TDP-43 in ALS, FTLD and other neurodegenerative disorders and in cellular models of TDP-43 proteinopathy

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12 December 2020

Angiogenin cleaves tRNA and promotes stress-induced translational repression

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12 December 2020

Inhibition of dynein but not kinesin induces aberrant focal accumulation of neurofilaments within axonal neurites

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12 December 2020

Elongator controls the migration and differentiation of cortical neurons through acetylation of alpha-tubulin

1 reference

12 December 2020

Abnormal TDP-43 expression is identified in the neocortex in cases of dementia pugilistica, but is mainly confined to the limbic system when identified in high and moderate stages of Alzheimer's disease.

1 reference

12 December 2020

DExD/H box RNA helicases: from generic motors to specific dissociation functions

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12 December 2020

Low serum angiogenin concentrations in patients with type 2 diabetes

1 reference

12 December 2020

TLS, EWS and TAF15: a model for transcriptional integration of gene expression

1 reference

12 December 2020

Liposarcoma initiated by FUS/TLS-CHOP: the FUS/TLS domain plays a critical role in the pathogenesis of liposarcoma

1 reference

12 December 2020

GRN variability contributes to sporadic frontotemporal lobar degeneration

1 reference

12 December 2020

Angiogenin is up-regulated in the nucleus and cytoplasm in human primary breast carcinoma and is associated with markers of hypoxia but not survival

1 reference

12 December 2020

Increased angiogenin expression in gastric cancer correlated with cancer progression

1 reference

12 December 2020

High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

1 reference

12 December 2020

A neurotoxic peripherin splice variant in a mouse model of ALS

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12 December 2020

An iron-sulfur cluster domain in Elp3 important for the structural integrity of elongator.

1 reference

12 December 2020

C-terminal FUS/TLS mutations in familial and sporadic ALS in Germany

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12 December 2020

Differential 3' splice site recognition of SMN1 and SMN2 transcripts by U2AF and U2 snRNP

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12 December 2020

Increased serum angiogenin concentration in colorectal cancer is correlated with cancer progression

1 reference

12 December 2020

TDP-43 A315T mutation in familial motor neuron disease

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12 December 2020

KH-type splicing regulatory protein interacts with survival motor neuron protein and is misregulated in spinal muscular atrophy.

1 reference

12 December 2020

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.

1 reference

12 December 2020

Transactive response DNA-binding protein 43 burden in familial Alzheimer disease and Down syndrome

1 reference

12 December 2020

Upf1/Upf2 regulation of 3' untranslated region splice variants of AUF1 links nonsense-mediated and A+U-rich element-mediated mRNA decay

1 reference

12 December 2020

Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy

1 reference

12 December 2020

Fusion of the dominant negative transcription regulator CHOP with a novel gene FUS by translocation t(12;16) in malignant liposarcoma

1 reference

12 December 2020

The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene

1 reference

12 December 2020

The survival motor neuron protein in spinal muscular atrophy

1 reference

12 December 2020

Cajal bodies and coilin--moving towards function

1 reference

12 December 2020

Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration.

1 reference

12 December 2020

Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q.

1 reference

12 December 2020

Truncation and pathogenic mutations facilitate the formation of intracellular aggregates of TDP-43.

1 reference

12 December 2020

Late onset of motor neurons in mice overexpressing wild-type peripherin

1 reference

12 December 2020

Multiple kinesin motors coordinate cytoplasmic RNA transport on a subpopulation of microtubules in Xenopus oocytes

1 reference

12 December 2020

A novel mouse model with impaired dynein/dynactin function develops amyotrophic lateral sclerosis (ALS)-like features in motor neurons and improves lifespan in SOD1-ALS mice

1 reference

12 December 2020

Rethinking ALS: the FUS about TDP-43.

1 reference

12 December 2020

Mutant Cu/Zn-superoxide dismutase associated with amyotrophic lateral sclerosis destabilizes vascular endothelial growth factor mRNA and downregulates its expression

1 reference

12 December 2020

Identification and characterization of an angiogenin-binding DNA sequence that stimulates luciferase reporter gene expression

1 reference

12 December 2020

SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing

1 reference

12 December 2020

Myosin-Va facilitates the accumulation of mRNA/protein complex in dendritic spines.

1 reference

12 December 2020

Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia

1 reference

12 December 2020

Serum levels of interleukins, growth factors and angiogenin in patients with endometrial cancer

1 reference

12 December 2020

Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs

1 reference

12 December 2020

Nuclear translocation of angiogenin in proliferating endothelial cells is essential to its angiogenic activity

1 reference

12 December 2020

Genome-wide distribution of yeast RNA polymerase II and its control by Sen1 helicase

1 reference

12 December 2020

Protein phosphatase 4 interacts with the Survival of Motor Neurons complex and enhances the temporal localisation of snRNPs

1 reference

12 December 2020

Kinesin transports RNA: isolation and characterization of an RNA-transporting granule

1 reference

12 December 2020

Progranulin genetic variability contributes to amyotrophic lateral sclerosis

1 reference

12 December 2020

Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide.

1 reference

12 December 2020

An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs

1 reference

12 December 2020

TDP-43 overexpression enhances exon 7 inclusion during the survival of motor neuron pre-mRNA splicing

1 reference

12 December 2020

Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model.

1 reference

12 December 2020

Epidemiology of ALS in Italy: a 10-year prospective population-based study.

1 reference

12 December 2020

Human angiogenin is a neuroprotective factor and amyotrophic lateral sclerosis associated angiogenin variants affect neurite extension/pathfinding and survival of motor neurons.

1 reference

12 December 2020

IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)

1 reference

12 December 2020

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis

1 reference

12 December 2020

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

12 December 2020

RNA-binding protein is involved in aggregation of light neurofilament protein and is implicated in the pathogenesis of motor neuron degeneration

1 reference

12 December 2020

TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.

1 reference

12 December 2020

Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations

1 reference

12 December 2020

Apoptotic death of neurons exhibiting peripherin aggregates is mediated by the proinflammatory cytokine tumor necrosis factor-alpha

1 reference

12 December 2020

Mutations in FUS cause FALS and SALS in French and French Canadian populations

1 reference

12 December 2020

Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation

1 reference

12 December 2020

Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts

1 reference

12 December 2020

Elevated serum angiogenin levels in ALS.

1 reference

12 December 2020

Oncoprotein TLS interacts with serine-arginine proteins involved in RNA splicing

1 reference

12 December 2020

Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?

1 reference

12 December 2020

Serum concentrations of insulin-like growth factor-1, soluble tumor necrosis factor receptor-1 and angiogenin in endometriosis patients

1 reference

12 December 2020

hTAF(II)68, a novel RNA/ssDNA-binding protein with homology to the pro-oncoproteins TLS/FUS and EWS is associated with both TFIID and RNA polymerase II

1 reference

12 December 2020

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

1 reference

12 December 2020

Structural insights into TDP-43 in nucleic-acid binding and domain interactions

1 reference

12 December 2020

TDP-43 is intrinsically aggregation-prone, and amyotrophic lateral sclerosis-linked mutations accelerate aggregation and increase toxicity

1 reference

12 December 2020

RNA translation in axons

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12 December 2020

A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis

1 reference

12 December 2020

Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD.

1 reference

12 December 2020

Kinesin superfamily protein 3 (KIF3) motor transports fodrin-associating vesicles important for neurite building

1 reference

12 December 2020

FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands.

1 reference

12 December 2020

Elevated angiogenin levels in the peritoneal fluid of women with endometriosis correlate with the extent of the disorder.

1 reference

12 December 2020

Increased angiogenin expression in pancreatic cancer is related to cancer aggressiveness

1 reference

12 December 2020

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.

1 reference

12 December 2020

When domestiques rebel: kinesins, cadherins and neuronal proliferation.

1 reference

12 December 2020

The myxoid liposarcoma FUS-DDIT3 fusion oncoprotein deregulates NF-kappaB target genes by interaction with NFKBIZ.

1 reference

12 December 2020

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

1 reference

12 December 2020

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

1 reference

12 December 2020

Angiogenin is a cytotoxic, tRNA-specific ribonuclease in the RNase A superfamily

1 reference

12 December 2020

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis

1 reference

12 December 2020

Induced ncRNAs allosterically modify RNA-binding proteins in cis to inhibit transcription

1 reference

12 December 2020

Angiogenin, interleukins, and growth-factor levels in serum of patients with ovarian cancer: correlation with angiogenesis

1 reference

12 December 2020

The granulin gene family: from cancer to dementia

1 reference

12 December 2020

Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy

1 reference

12 December 2020

Human low molecular weight neurofilament (NFL) mRNA interacts with a predicted p190RhoGEF homologue (RGNEF) in humans

1 reference

12 December 2020

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

1 reference

12 December 2020

Serum angiogenin concentrations in young patients with diabetes mellitus

1 reference

12 December 2020

Clinical and Molecular Findings of Ataxia With Oculomotor Apraxia Type 2 in 4 Families

1 reference

12 December 2020

TDP-43 pathology in familial British dementia.

1 reference

12 December 2020

10.1007/S10048-010-0239-4

Identifiers

DOI

1 reference

22 August 2017

1 reference

PubMed ID

20349096