A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration

EMBO Journal

Volumn 19, Issue 12, 2000, Pages 2786-2792

  Tyynelä, Jaana ^a   Sohar, Istvan ^b   Sleat, David E ^b   Gin, Rosalie M ^b   Donnelly, Robert J ^c   Baumann, Marc ^a   Haltia, Matti ^d   Lobel, Peter ^b  

^a HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^b RUTGERS UNIVERSITY   (United States)

^c RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

^d UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Aspartyl proteinase; Batten's disease; Cathepsin D; Ceroid lipofuscinosis; Neurodegeneration

Indexed keywords

ASPARAGINE; ASPARTIC ACID; ASPARTIC PROTEINASE; CATHEPSIN D; NUCLEOTIDE; PROTEIN;

ANIMAL TISSUE; ARTICLE; AUTOFLUORESCENCE; BLINDNESS; BRAIN CORTEX ATROPHY; CELL DEATH; CELL ORGANELLE; CELL TYPE; CENTRAL NERVOUS SYSTEM; CONTROLLED STUDY; DEATH; GENE MUTATION; HOMEOSTASIS; HUMAN; LIPOFUSCINOSIS; LYSOSOME STORAGE DISEASE; MOUSE; NERVE CELL; NERVE DEGENERATION; NERVE GROWTH; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOLOGY; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SHEEP;

ANIMALIA; MAMMALIA; OVIS; OVIS ARIES;

EID: 0034659833     PISSN: 02614189     EISSN: None     Source Type: Journal    
DOI: 10.1093/emboj/19.12.2786     Document Type: Article

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