KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. (Q35161567)

6 August 2017

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. (English)

1 reference

hereditary sensory and autonomic neuropathy type 2

6 August 2017

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1 reference

23

Guy A Rouleau

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Hilde Van Esch

17

Hilde Van Esch

1 reference

6 August 2017

15

Bernard Brais

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Nancy D Merner

Nancy Merner

8

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Shahriar Nafissi

Shahriar Nafissi

18

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Anne-Marie Mes-Masson

Anne-Marie Mes-Masson

12

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Patrick A Dion

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Patrick A Dion

1 reference

6 August 2017

20

Mary M Reilly

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6 August 2017

10

Pascale Hince

1 reference

6 August 2017

9

Daniel Rochefort

1 reference

6 August 2017

Jean-Baptiste Rivière

1

Jean-Baptiste Rivière

1 reference

6 August 2017

4

Masoud Shekarabi

1 reference

6 August 2017

11

Rébecca Gaudet

1 reference

6 August 2017

3

Valérie Lavastre

1 reference

6 August 2017

7

Myriam Srour

1 reference

6 August 2017

19

Peter De Jonghe

1 reference

6 August 2017

2

Siriram Ramalingam

1 reference

6 August 2017

Sébastien Holbert

5

1 reference

6 August 2017

Julie Lafontaine

6

1 reference

6 August 2017

Jonathan Baets

13

1 reference

6 August 2017

Henry Houlden

14

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6 August 2017

Garth A Nicholson

16

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6 August 2017

Vincent Timmerman

21

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6 August 2017

language of work or name

English

0 references

publication date

4 August 2011

1 reference

American Journal of Human Genetics

6 August 2017

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6 August 2017

89

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6 August 2017

2

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6 August 2017

219-230

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Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

6 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155159

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155159

Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155159

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155159

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155159

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155159

Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155159

PLINK: a tool set for whole-genome association and population-based linkage analyses

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155159

JNK mediates pathogenic effects of polyglutamine-expanded androgen receptor on fast axonal transport

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155159

Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155159

WNK1 phosphorylates synaptotagmin 2 and modulates its membrane binding

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155159

The lipid binding pleckstrin homology domain in UNC-104 kinesin is necessary for synaptic vesicle transport in Caenorhabditis elegans

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155159

Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155159

A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155159

Guideline to reference gene selection for quantitative real-time PCR

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155159

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155159

Assessment and evaluation of hereditary sensory and autonomic neuropathies with autonomic and neurophysiological examinations

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155159

Hereditary sensory and autonomic neuropathies. Familial dysautonomia and other HSANs

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155159

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155159

Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155159

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155159

Defect in synaptic vesicle precursor transport and neuronal cell death in KIF1A motor protein-deficient mice.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155159

Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155159

The neuron-specific kinesin superfamily protein KIF1A is a unique monomeric motor for anterograde axonal transport of synaptic vesicle precursors

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155159

Hereditary sensory neuropathy, type II. Clinical, electrophysiologic, histologic, and biochemical studies of a Quebec kinship.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155159

The C. elegans unc-104 4 gene encodes a putative kinesin heavy chain-like protein

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155159

The phosphorylation of kinesin regulates its binding to synaptic vesicles

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155159

Congenital sensory neuropathy

13 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21820098

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21820098

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2011.06.013

1 reference

6 August 2017

1 reference

6 August 2017

1 reference