Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. (Q34157065)

31 July 2017

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

1 reference

high-throughput sequencing

31 July 2017

1 reference

based on heuristic

inferred from title

author

Michaela Auer-Grumbach

20

Michaela Auer-Grumbach

0 references

Eleonore Fröhlich

Eleonore Fröhlich

14

0 references

Andreas Janecke

Andreas R Janecke

18

0 references

Mary Reilly

13

Mary M Reilly

1 reference

31 July 2017

Christian Guelly

1

1 reference

31 July 2017

Peng-Peng Zhu

2

1 reference

31 July 2017

Lea Leonardis

3

1 reference

31 July 2017

Lea Papić

4

1 reference

31 July 2017

Janez Zidar

5

1 reference

31 July 2017

Maria Schabhüttl

6

1 reference

31 July 2017

Heimo Strohmaier

7

1 reference

31 July 2017

Joachim Weis

8

1 reference

31 July 2017

Tim M Strom

9

1 reference

31 July 2017

Jonathan Baets

10

1 reference

31 July 2017

Jan Willems

11

1 reference

31 July 2017

Peter De Jonghe

12

1 reference

31 July 2017

Martina Hatz

15

1 reference

31 July 2017

Slave Trajanoski

16

1 reference

31 July 2017

Thomas R Pieber

17

1 reference

31 July 2017

Craig Blackstone

19

1 reference

31 July 2017

language of work or name

English

0 references

publication date

30 December 2010

1 reference

American Journal of Human Genetics

31 July 2017

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31 July 2017

88

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31 July 2017

99-105

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31 July 2017

1

1 reference

Hereditary spastic paraplegias: membrane traffic and the motor pathway

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014370

Zebrafish atlastin controls motility and spinal motor axon architecture via inhibition of the BMP pathway

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014370

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014370

Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014370

Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014370

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014370

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014370

Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014370

Exome sequencing identifies the cause of a mendelian disorder

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014370

A class of dynamin-like GTPases involved in the generation of the tubular ER network

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014370

Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014370

Regulation of secretory vesicle traffic by Rab small GTPases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014370

Atlastin GTPases are required for Golgi apparatus and ER morphogenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014370

Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014370

SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014370

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014370

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014370

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014370

Characterization of a novel SPG3A deletion in a French-Canadian family.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014370

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014370

Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21194679

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Hereditary Spastic Paraplegia 3A Associated With Axonal Neuropathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21194679

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2010.12.003

1 reference

31 July 2017

1 reference

31 July 2017

1 reference