β-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi

Human Molecular Genetics

Volumn 19, Issue 18, 2010, Pages 3634-3641

  Clarkson, Yvonne L ^a,b   Gillespie, Trudi ^c   Perkins, Emma M ^a,b   Lyndon, Alastair R ^d   Jackson, Mandy ^a,b  

^a Centre for Integrative Physiology   (United Kingdom)

^b Euan MacDonald Centre for Motor Neuron Disease Research   (United Kingdom)

^c UNIVERSITY OF EDINBURGH   (United Kingdom)

^d HERIOT WATT UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN RELATED PROTEIN; ACTIN RELATED PROTEIN 1; BETA III SPECTRIN; DYNACTIN; DYNEIN ADENOSINE TRIPHOSPHATASE; EAAT4 PROTEIN; MEMBRANE PROTEIN; MUTANT PROTEIN; SPECTRIN; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CELL MEMBRANE; CELL STRESS; CONTROLLED STUDY; EMBRYO; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GOLGI COMPLEX; HETEROZYGOSITY; HUMAN; HUMAN CELL; LOW TEMPERATURE; MOUSE; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DEPLETION; PROTEIN FOLDING; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; SPINOCEREBELLAR ATAXIA TYPE 5; SPINOCEREBELLAR DEGENERATION; WILD TYPE;

ANIMALS; DISEASE MODELS, ANIMAL; FEMALE; GOLGI APPARATUS; HUMANS; MALE; MICE; MICE, KNOCKOUT; MICROFILAMENT PROTEINS; MUTATION, MISSENSE; PROTEIN BINDING; PROTEIN TRANSPORT; SPECTRIN; SPINOCEREBELLAR ATAXIAS;

ANIMALIA;

EID: 77956123201     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddq279     Document Type: Article

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