Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

American Journal of Human Genetics

Volumn 89, Issue 2, 2011, Pages 241-252

  Nosková, Lenka ^a,b   Stránecký, Viktor ^a,b   Hartmannová, Hana ^a,b   Přistoupilová, Anna ^a,b   Barešová, Veronika ^a,b   Ivánek, Robert ^a,b   Hlková, Helena ^a   Jahnová, Helena ^a   Van Der Zee, Julie ^c,d   Staropoli, John F ^e   Sims, Katherine B ^e   Tyynelä, Jaana ^f   Van Broeckhoven, Christine ^c,d   Nijssen, Peter C G ^g   Mole, Sara E ^h   Elleder, Milan ^a,b   Kmoch, Stanislav ^a,b  

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^d UNIVERSITY OF ANTWERP   (Belgium)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

^f UNIVERSITY OF HELSINKI   (Finland)

^g CPRLab   (Netherlands)

^h UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE STRING PROTEIN; CYSTEINE STRING PROTEIN ALPHA; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BRAIN NERVE CELL; CHEMICAL ANALYSIS; COPY NUMBER VARIATION; DNAJC5 GENE; GENE; GENE DELETION; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC LINKAGE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LINKAGE ANALYSIS; MALE; NERVE DEGENERATION; NEURONAL CEROID LIPOFUSCINOSIS; NEUROPATHOLOGY; NUCLEOTIDE SEQUENCE; PALMITOYLATION; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN FOLDING; SEQUENCE ANALYSIS; SYNAPTIC POTENTIAL;

ADULT; AGE OF ONSET; BASE SEQUENCE; BRAIN; CHROMOSOME SEGREGATION; EXONS; FAMILY; FEMALE; GENE DOSAGE; GENE EXPRESSION REGULATION; GENES, DOMINANT; GENETIC LINKAGE; HSP40 HEAT-SHOCK PROTEINS; HUMANS; LIPOYLATION; LYSOSOMES; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; NEURONS; PEDIGREE; PROTEIN TRANSPORT; SEQUENCE ANALYSIS, DNA;

EID: 80051672679     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.07.003     Document Type: Article

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