(Q51846625)

14 April 2018

title

Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia. (English)

1 reference

14 April 2018

author

Mustafa A. Salih

2

1 reference

14 April 2018

author name string

Mirna Assoum

1

1 reference

14 April 2018

Nathalie Drouot

3

1 reference

14 April 2018

Dorra H'Mida-Ben Brahim

4

1 reference

14 April 2018

Clotilde Lagier-Tourenne

5

1 reference

14 April 2018

Abdulmajeed AlDrees

6

1 reference

14 April 2018

Salah A Elmalik

7

1 reference

14 April 2018

Taha S Ahmed

8

1 reference

14 April 2018

Mohammad Z Seidahmed

9

1 reference

14 April 2018

Mohammad M Kabiraj

10

1 reference

14 April 2018

Michel Koenig

11

1 reference

14 April 2018

language of work or name

English

0 references

publication date

1 August 2010

1 reference

14 April 2018

published in

Brain

1 reference

14 April 2018

volume

133

1 reference

14 April 2018

issue

Pt 8

1 reference

14 April 2018

page(s)

2439-2447

1 reference

14 April 2018

Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

RUN domains: a new family of domains involved in Ras-like GTPase signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

C1 domains exposed: from diacylglycerol binding to protein-protein interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

A novel RAB7 mutation associated with ulcero-mutilating neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

Role of the FYVE finger and the RUN domain for the subcellular localization of Rabip4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

Vitamin E--its role in neurological function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

Atlastin GTPases are required for Golgi apparatus and ER morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

Rab proteins as membrane organizers

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

Cellular Localization, Oligomerization, and Membrane Association of the Hereditary Spastic Paraplegia 3A (SPG3A) Protein Atlastin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ181

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWQ181

1 reference

14 April 2018

1 reference

14 April 2018