Fig4 deficiency: A newly emerged lysosomal storage disorder?

Progress in Neurobiology

Volumn 101-102, Issue 1, 2013, Pages 35-45

  Martyn, Colin ^a,b   Li, Jun ^a,b  

^a VETERANS AFFAIRS MEDICAL CENTER   (United States)

^b VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

CMT4J; Fig4; Lysosomal storage; Peripheral neuropathy; PI(3,5)P2; Segmental demyelination

Indexed keywords

LYSOSOME ASSOCIATED MEMBRANE PROTEIN 1; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 2;

AUTOPHAGY; AUTOSOMAL RECESSIVE DISORDER; CELL VACUOLE; CHROMOSOME 6Q; CLINICAL FEATURE; CRANIAL NERVE INJURY; DEEP TENDON REFLEX; DEMYELINATING DISEASE; DEMYELINATING NEUROPATHY; ENDOSOME; FIG4 DEFICIENCY; HUMAN; IMMUNOHISTOCHEMISTRY; INTRACELLULAR SPACE; LATENT PERIOD; LIPIDOSIS; LIPOFUSCINOSIS; LOSS OF FUNCTION MUTATION; LYSOSOME STORAGE DISEASE; MISSENSE MUTATION; MOTOR NEURON DISEASE; MUCOPOLYSACCHARIDOSIS; MUSCLE ATROPHY; MUSCLE WEAKNESS; NEUROLOGIC EXAMINATION; NONHUMAN; NULL ALLELE; OLIGODENDROGLIA; PERIPHERAL NEUROPATHY; POINT MUTATION; PRIORITY JOURNAL; REVIEW; SENSORY NERVE CELL; TAY SACHS DISEASE; TENDON REFLEX;

ANIMALS; DISEASE MODELS, ANIMAL; FLAVOPROTEINS; HUMANS; LYSOSOMAL STORAGE DISEASES; MICE;

EID: 84873168266     PISSN: 03010082     EISSN: 18735118     Source Type: Journal    
DOI: 10.1016/j.pneurobio.2012.11.001     Document Type: Review

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