(Q28240488)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15776429%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

title

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation (English)

1 reference

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9 January 2020

4

1 reference

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9 January 2020

Andrzej Kochański

7

1 reference

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Irena Hausmanowa-Petrusewicz

9 January 2020

6

object named as

Irena Hausmanowa-Petrusewicz

1 reference

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9 January 2020

11

James R Lupski

1 reference

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9 January 2020

9

Pedro Mancias

1 reference

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9 January 2020

Gulam Mustafa Saifi

1

object named as

Gulam Mustafa Saifi

1 reference

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9 January 2020

Karen Krajewski

5

object named as

Karen Krajewski

1 reference

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9 January 2020

author name string

Kinga Szigeti

2

1 reference

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9 January 2020

Wojciech Wiszniewski

3

1 reference

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9 January 2020

Suzanne Reeser

8

1 reference

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9 January 2020

Ian Butler

10

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9 January 2020

language of work or name

English

0 references

publication date

1 April 2005

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9 January 2020

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9 January 2020

volume

25

1 reference

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9 January 2020

issue

4

1 reference

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9 January 2020

page(s)

372-383

1 reference

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The ubiquitin-proteasome proteolytic pathway: destruction for the sake of construction

9 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

Human ubiquitin-protein ligase Nedd4: expression, subcellular localization and selective interaction with ubiquitin-conjugating enzymes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Connexin mutations in X-linked Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

DNA methylation and the frequency of CpG in animal DNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Nedd4.1-mediated ubiquitination and subsequent recruitment of Tsg101 ensure HTLV-1 Gag trafficking towards the multivesicular body pathway prior to virus budding

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Periaxin mutations cause recessive Dejerine-Sottas neuropathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

CMT4A: identification of a Hispanic GDAP1 founder mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Molecular basis of base substitution hotspots in Escherichia coli

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Predictive identification of exonic splicing enhancers in human genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Tsg101 and the vacuolar protein sorting pathway are essential for HIV-1 budding

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Amino acid difference formula to help explain protein evolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Sorting out the complexity of SR protein functions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Regulation of Membrane Protein Transport by Ubiquitin and Ubiquitin-Binding Proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Identification of multiple proteins expressed in murine embryos as binding partners for the WW domains of the ubiquitin-protein ligase Nedd4

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

SDPpred: a tool for prediction of amino acid residues that determine differences in functional specificity of homologous proteins.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Structure of the WW domain of a kinase-associated protein complexed with a proline-rich peptide.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Understanding human disease mutations through the use of interspecific genetic variation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Mycobacterium bovis Bacillus Calmette-Guerin and its cell wall complex induce a novel lysosomal membrane protein, SIMPLE, that bridges the missing link between lipopolysaccharide and p53-inducible gene, LITAF(PIG7), and estrogen-inducible gene, EET-1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

A novel lipopolysaccharide-induced transcription factor regulating tumor necrosis factor alpha gene expression: molecular cloning, sequencing, characterization, and chromosomal assignment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Neurons promote the translocation of peripheral myelin protein 22 into myelin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

A model for p53-induced apoptosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Novel protein domains and repeats in Drosophila melanogaster: insights into structure, function, and evolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Structure and functional interactions of the Tsg101 UEV domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

ELM server: A new resource for investigating short functional sites in modular eukaryotic proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Protein sorting into multivesicular endosomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Improved splice site detection in Genie

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Aggresome formation in neuropathy models based on peripheral myelin protein 22 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Molecular Mechanisms, Diagnosis, and Rational Approaches to Management of and Therapy for Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Structure and function of the WW domain.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Sequence-specific RNA binding by an SR protein requires RS domain phosphorylation: creation of an SRp40-specific splicing enhancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20153

7 January 2021

Identifiers

DOI

10.1002/HUMU.20153

2 references

Consolidated OpenCitations Corpus – April 2017

3793485

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15776429%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

3793485

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

3793485