(Q39150934)

9 September 2017

ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN. (English)

1 reference

amyotrophic lateral sclerosis

9 September 2017

1 reference

based on heuristic

inferred from title

Survival motor neuron 1

1 reference

GOA release 2020-03-11

Fused in sarcoma

1 reference

GOA release 2020-03-11

author

Max Koppers

7

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9 September 2017

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9 September 2017

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9 September 2017

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9 September 2017

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Eleonora Aronica

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9 September 2017

Leonard H van den Berg

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object named as

Leonard H van den Berg

1 reference

9 September 2017

15

Jan H Veldink

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9 September 2017

Ewout J N Groen

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1 reference

9 September 2017

Katsumi Fumoto

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9 September 2017

Anna M Blokhuis

3

1 reference

9 September 2017

Jooyeon Engelen-Lee

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9 September 2017

Yeping Zhou

5

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9 September 2017

Dianne M A van den Heuvel

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9 September 2017

Femke van Diggelen

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9 September 2017

Jessica van Heest

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9 September 2017

Wim G M Spliet

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9 September 2017

R Jeroen Pasterkamp

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9 September 2017

15 May 2013

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9 September 2017

Human Molecular Genetics

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9 September 2017

22

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9 September 2017

18

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9 September 2017

3690-3704

1 reference

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

9 September 2017

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Review: neuromuscular synaptic vulnerability in motor neurone disease: amyotrophic lateral sclerosis and spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Nuclear transport impairment of amyotrophic lateral sclerosis-linked mutations in FUS/TLS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

A yeast model of FUS/TLS-dependent cytotoxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Molecular determinants and genetic modifiers of aggregation and toxicity for the ALS disease protein FUS/TLS

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Essential role for the SMN complex in the specificity of snRNP assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

SMN1 gene duplications are associated with sporadic ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

FUS-SMN protein interactions link the motor neuron diseases ALS and SMA

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Spliceosome integrity is defective in the motor neuron diseases ALS and SMA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

The spinal muscular atrophy gene product regulates neurite outgrowth: importance of the C terminus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

A new subtype of frontotemporal lobar degeneration with FUS pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Efficient biotinylation and single-step purification of tagged transcription factors in mammalian cells and transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Spinal muscular atrophy: the role of SMN in axonal mRNA regulation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Identification and characterization of a spinal muscular atrophy-determining gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

A Drosophila model of FUS-related neurodegeneration reveals genetic interaction between FUS and TDP-43.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Global analysis of TDP-43 interacting proteins reveals strong association with RNA splicing and translation machinery.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Loss of fused in sarcoma (FUS) promotes pathological Tau splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Intracellular localization and splicing regulation of FUS/TLS are variably affected by amyotrophic lateral sclerosis-linked mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Inhibition of RNA lariat debranching enzyme suppresses TDP-43 toxicity in ALS disease models

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

TDP-43 toxicity and the usefulness of junk

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Characterization of an RNA granule from developing brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Laminin induced local axonal translation of β-actin mRNA is impaired in SMN-deficient motoneurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

QNQKE targeting motif for the SMN-Gemin multiprotein complexin neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

SMN is required for sensory-motor circuit function in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

An SMN-dependent U12 splicing event essential for motor circuit function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Familial ALS with FUS P525L mutation: two Japanese sisters with multiple systems involvement.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Sporadic juvenile amyotrophic lateral sclerosis caused by mutant FUS/TLS: possible association of mental retardation with this mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Exome sequencing reveals VCP mutations as a cause of familial ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Altered distributions of Gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Nuclear localization of human SOD1 and mutant SOD1-specific disruption of survival motor neuron protein complex in transgenic amyotrophic lateral sclerosis mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Mutant superoxide dismutase 1 (SOD1), a cause of amyotrophic lateral sclerosis, disrupts the recruitment of SMN, the spinal muscular atrophy protein to nuclear Cajal bodies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Dynamic microtubules regulate dendritic spine morphology and synaptic plasticity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Ultrastructural analysis of the functional domains in FMRP using primary hippocampal mouse neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

Survival motor neuron affects plastin 3 protein levels leading to motor defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

MICAL-1 is a negative regulator of MST-NDR kinase signaling and apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

A novel function for the survival motoneuron protein as a translational regulator

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT222

21 January 2018

Identifiers

DOI

10.1093/HMG/DDT222

1 reference

9 September 2017

1 reference