Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy (Q33904567)

29 July 2017

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

1 reference

29 July 2017

author

Michaela Auer-Grumbach

5

object named as

Michaela Auer-Grumbach

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Hans-Peter Hartung

13

object named as

Hans-Peter Hartung

1 reference

29 July 2017

Kristien Verhoeven

1

1 reference

29 July 2017

Peter De Jonghe

2

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29 July 2017

Katrien Coen

3

1 reference

29 July 2017

Nathalie Verpoorten

4

1 reference

29 July 2017

Jennifer M Kwon

6

1 reference

29 July 2017

David FitzPatrick

7

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29 July 2017

Eric Schmedding

8

1 reference

29 July 2017

Els De Vriendt

9

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29 July 2017

An Jacobs

10

1 reference

29 July 2017

Veerle Van Gerwen

11

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29 July 2017

Klaus Wagner

12

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29 July 2017

Vincent Timmerman

14

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29 July 2017

language of work or name

English

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publication date

21 January 2003

1 reference

American Journal of Human Genetics

29 July 2017

published in

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volume

72

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29 July 2017

issue

3

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29 July 2017

page(s)

722-727

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Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180247

Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180247

Late endosome motility depends on lipids via the small GTPase Rab7.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180247

Rab GTPases, intracellular traffic and disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180247

Protein trafficking mechanisms associated with neurite outgrowth and polarized sorting in neurons.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180247

The Rab7 effector protein RILP controls lysosomal transport by inducing the recruitment of dynein-dynactin motors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180247

Rab23 is an essential negative regulator of the mouse Sonic hedgehog signalling 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=1180247

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=1180247

SPTLC1 is mutated in hereditary sensory neuropathy, type 1

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180247

Rab-interacting lysosomal protein (RILP): the Rab7 effector required for transport to lysosomes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180247

Rab5 regulates motility of early endosomes on microtubules

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180247

Mutant Rab7 Causes the Accumulation of Cathepsin D and Cation-independent Mannose 6–Phosphate Receptor in an Early Endocytic Compartment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180247

Interaction of a Golgi-associated kinesin-like protein with Rab6

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180247

Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B 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=1180247

The small GTP-binding protein Rab3A regulates a late step in synaptic vesicle fusion

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180247

Molecular cloning and expression analysis of the human Rab7 GTP-ase complementary deoxyribonucleic acid

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180247

Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180247

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

5 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12545426

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12545426

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12545426

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/367847

1 reference

29 July 2017

1 reference

29 July 2017

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