The salih ataxia mutation impairs rubicon endosomal localization

Cerebellum

Volumn 12, Issue 6, 2013, Pages 835-840

  Assoum, M ^a,c   Salih, M A ^b   Drouot, N ^a   Hnia, K ^a   Martelli, A ^a   Koenig, M ^a  

^a UNIVERSITÉ DE STRASBOURG   (France)

^b KING SAUD UNIVERSITY   (Saudi Arabia)

^c AIX MARSEILLE UNIVERSITY   (France)

Author keywords

DAG bindinglike motif; Rab7; Rubicon; Salih ataxia

Indexed keywords

ALANINE; CELL PROTEIN; DIACYLGLYCEROL; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 1; PHENYLALANYLTYROSYLVALYLGLUTAMIC ACID; POLYPEPTIDE; RAB7 PROTEIN; RUBICON PROTEIN; UNCLASSIFIED DRUG; VALINE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CELL STRAIN COS1; CONTROLLED STUDY; ENDOSOME; FRAMESHIFT MUTATION; HELA CELL; HUMAN; HUMAN CELL; LYSOSOME; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN MOTIF; PROTEIN PROTEIN INTERACTION; SALIH ATAXIA MUTATION; SEQUENCE HOMOLOGY; WESTERN BLOTTING;

ANIMALS; ATAXIA; CELLS, CULTURED; CERCOPITHECUS AETHIOPS; DIGLYCERIDES; ENDOSOMES; GENE EXPRESSION; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 1; LYSOSOMES; MUTATION; PROTEIN STRUCTURE, TERTIARY; PROTEIN TRANSPORT; RAB GTP-BINDING PROTEINS; RAB5 GTP-BINDING PROTEINS; SKIN; TRANSFECTION;

EID: 84892436917     PISSN: 14734222     EISSN: 14734230     Source Type: Journal    
DOI: 10.1007/s12311-013-0489-4     Document Type: Article

References (10)

1. Anheim M, Tranchant C, Koenig M. The autosomal recessive cerebellar ataxias. N Engl J Med. 2012;366:636-46.
2. Assoum M, Salih MA, Drouot N, H'Mida-Ben Brahim D, Lagier-Tourenne C, AlDrees A, et al. Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia. Brain. 2010;133:2439-47.
3. Matsunaga K, Saitoh T, Tabata K, Omori H, Satoh T, Kurotori N, et al. Two Beclin 1-binding proteins, Atg14L, and Rubicon, reciprocally regulate autophagy at different stages. Nat Cell Biol. 2009;11:385-96.
4. Zhong Y, Wang QJ, Li X, Yan Y, Backer JM, Chait BT, et al. Distinct regulation of autophagic activity by Atg14L and Rubicon associated with Beclin 1-phosphatidylinositol-3-kinase complex. Nat Cell Biol. 2009;11:468-76.
5. Sun Q, Westphal W, Wong KN, Tan I, Zhong Q. Rubicon controls endosome maturation as a Rab7 effector. Proc Natl Acad Sci U S A. 2010;107:19338-43.
6. Tabata K, Matsunaga K, Sakane A, Sasaki T, Noda T, Yoshimori T. Rubicon and PLEKHM1 negatively regulate the endocytic/ autophagic pathway via a novel Rab7-binding domain. Mol Biol Cell. 2010;21:4162-72.
7. Van Wesenbeeck L, Odgren PR, Coxon FP, Frattini A, Moens P, Perdu B, et al. Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans. J Clin Invest. 2007;117:919-30.
8. Lin MG, Zhong Q. Interaction between small GTPase Rab7 and PI3KC3 links autophagy and endocytosis: a new Rab7 effector protein sheds light on membrane trafficking pathways. Small GTPases. 2011;2:85-8.
9. Verhoeven K, De Jonghe P, Coen K, Verpoorten N, Auer-Grumbach M, Kwon JM, et al. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet. 2003;72:722-7.
10. Spinosa MR, Progida C, De Luca A, Colucci AM, Alifano P, Bucci C. Functional characterization of Rab7 mutant proteins associated with Charcot-Marie-Tooth type 2B disease. J Neurosci. 2008;28:1640-8.