Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy

Human Molecular Genetics

Volumn 21, Issue 8, 2012, Pages 1794-1807

  Yi, Ling ^a   Donsante, Anthony ^a   Kennerson, Marina L ^b   Mercer, Julian F B ^c   Garbern, James Y ^d   Kaler, Stephen G ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b UNIVERSITY OF SYDNEY   (Australia)

^c DEAKIN UNIVERSITY   (Australia)

^d UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBODY; CARBOXYL GROUP; LEUCINE; MENKES PROTEIN; PROTEIN P97; SMALL INTERFERING RNA; VALOSIN CONTAINING PROTEIN;

ADOLESCENT; ADULT; ALLELE; AMINO ACID ANALYSIS; ARTICLE; CELL MIGRATION; CONFOCAL MICROSCOPY; DISEASE ASSOCIATION; ENDOCYTOSIS; EXTRACELLULAR SPACE; FIBROBLAST; FLOW CYTOMETRY; FLUORESCENCE MICROSCOPY; FRONTOTEMPORAL DEMENTIA; GENE INSERTION; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; IMMUNOPRECIPITATION; MOTONEURON; MOTOR NEUROPATHY; MUTANT; PAGET BONE DISEASE; PRIORITY JOURNAL; PROTEIN INTERACTION; PROTEIN LOCALIZATION; SIGNAL TRANSDUCTION; TRANS GOLGI NETWORK;

ADENOSINE TRIPHOSPHATASES; ALLELES; CATION TRANSPORT PROTEINS; CELL CYCLE PROTEINS; CELL MEMBRANE; ENDOCYTOSIS; FIBROBLASTS; HEK293 CELLS; HUMANS; MOTOR NEURON DISEASE; MOTOR NEURONS; MUTATION; PROTEIN BINDING; PROTEIN STRUCTURE, SECONDARY; PROTEIN TRANSPORT; TRANS-GOLGI NETWORK;

EID: 84859233787     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr612     Document Type: Article

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