Genetic disorders involving molecular-chaperone genes: A perspective

Genetics in Medicine

Volumn 7, Issue 1, 2005, Pages 3-12

  Macario, Alberto J L ^a,b   Grippo, Tomas M ^a   De Macario, Everly Conway ^a  

^a WADSWORTH CENTER   (United States)

^b STATE UNIVERSITY OF NEW YORK   (United States)

Author keywords

Defective chaperones; Eye diseases; Genetic chaperonopathies; Neuromuscular diseases; Structural chaperonopathies

Indexed keywords

ALPHA SYNUCLEIN; BETA SYNUCLEIN; CHAPERONE; CHAPERONIN; CRYSTALLIN; DESMIN; GAMMA SYNUCLEIN; HEAT SHOCK PROTEIN; PROTEASOME; SYNUCLEIN; UBIQUITIN;

AMINO ACID SEQUENCE; ATAXIA; BARDET BIEDL SYNDROME; CHROMOSOME MAP; CLINICAL FEATURE; CONGENITAL HYPOTHYROIDISM; DISTAL MYOPATHY; FACE DYSMORPHIA; GENE FUNCTION; GENE LOCATION; GENE MUTATION; GENE STRUCTURE; GENETIC DISORDER; GROWTH RETARDATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INTRACELLULAR TRANSPORT; KENNY CAFFEY SYNDROME; LEBER CONGENITAL AMAUROSIS; MCKUSICK KAUFMAN SYNDROME; MENTAL RETARDATION MALFORMATION SYNDROME; MOTOR NEUROPATHY; NEUROMUSCULAR DISEASE; NONHUMAN; PARKINSON DISEASE; PATHOGENESIS; PHENOTYPE; PROTEIN AGGREGATION; PROTEIN DEFECT; PROTEIN DEGRADATION; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN SYNTHESIS; RETINITIS PIGMENTOSA; REVIEW; SANJAD SAKATI SYNDROME; SPASTIC PARAPLEGIA; WILLIAMS BEUREN SYNDROME; X CHROMOSOME LINKAGE;

ANIMALS; GENETIC DISEASES, INBORN; HEAT-SHOCK PROTEINS; HUMANS; MOLECULAR CHAPERONES; MUTATION; PROTEASOME ENDOPEPTIDASE COMPLEX;

ATAXIA;

EID: 12144282296     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.GIM.0000151351.11876.C3     Document Type: Review

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