Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes

Human Molecular Genetics

Volumn 13, Issue 20, 2004, Pages 2483-2491

  Steinfeld, Robert ^a,d   Steinke, Hans Bertram ^b   Isbrandt, Dirk ^c   Kohlschütter, Alfried ^b   Gärtner, Jutta ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c UNIVERSITY OF HAMBURG   (Germany)

^d UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ENZYME PRECURSOR; PEPTIDE HYDROLASE; TRIPEPTIDYL PEPTIDASE I; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL COMPARTMENTALIZATION; CELLULAR DISTRIBUTION; CONTROLLED STUDY; DEGENERATIVE DISEASE; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DISEASE COURSE; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; ENZYME DEGRADATION; ENZYME STABILITY; ENZYME SYNTHESIS; GENE FUNCTION; GENE MUTATION; GENETIC CONSERVATION; HUMAN; HUMAN CELL; LYSOSOME; MISSENSE MUTATION; MOTOR DYSFUNCTION; NEURONAL CEROID LIPOFUSCINOSIS; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN PROCESSING; PROTEIN TRANSPORT; SPEECH DISORDER; VISUAL DISORDER;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; CELL LINE; ENDOPEPTIDASES; GENE EXPRESSION; HUMANS; LYSOSOMES; MOLECULAR SEQUENCE DATA; NEURONAL CEROID-LIPOFUSCINOSES; PEPTIDE HYDROLASES; POINT MUTATION; PROTEIN TRANSPORT; SEQUENCE ALIGNMENT; TRANSFECTION;

EID: 19544365253     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddh264     Document Type: Article

References (23)

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