Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I

Human Mutation

Volumn 31, Issue 6, 2010, Pages 710-721

  Walus, Mariusz ^a   Kida, Elizabeth ^a   Golabek, Adam A ^a  

^a NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

Author keywords

Chemical chaperones; CLN2; Lysosomal storage disorders; Protein misfolding; TPP1; TPPI

Indexed keywords

AMINOPEPTIDASE; ARGININE; CALRETICULIN; COMPLEMENTARY DNA; ENZYME PRECURSOR; GLYCINE; HISTIDINE; HOMODIMER; MUTANT PROTEIN; PROTEASOME; TRIPEPTIDYL PEPTIDASE I; UBIQUITIN; UNCLASSIFIED DRUG; CHAPERONE; DIPEPTIDYL PEPTIDASE; SERINE PROTEINASE; TRIPEPTIDYL-PEPTIDASE 1;

ANIMAL CELL; ARTICLE; BIOINFORMATICS; CELLULAR DISTRIBUTION; CHO CELL; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME LOCALIZATION; GENETIC VARIABILITY; IMMUNOBLOTTING; LYSOSOME; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; OLIGOMERIZATION; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN FOLDING; PROTEIN GLYCOSYLATION; PROTEIN TRANSPORT; TEMPERATURE SENSITIVITY; ANIMAL; CHO CELL LINE; CONFOCAL MICROSCOPY; CRICETULUS; ENDOPLASMIC RETICULUM; ENZYME STABILITY; ENZYMOLOGY; GENETIC COMPLEMENTATION; GENETIC TRANSFECTION; GENETICS; HAMSTER; HUMAN; INFANT; METABOLISM; NEURONAL CEROID LIPOFUSCINOSIS; SECRETION (PROCESS); TEMPERATURE; TIME;

CRICETULUS GRISEUS;

AMINOPEPTIDASES; ANIMALS; CHO CELLS; CRICETINAE; CRICETULUS; DIPEPTIDYL-PEPTIDASES AND TRIPEPTIDYL-PEPTIDASES; ENDOPLASMIC RETICULUM; ENZYME STABILITY; GENETIC COMPLEMENTATION TEST; HUMANS; IMMUNOBLOTTING; INFANT; LYSOSOMES; MICROSCOPY, CONFOCAL; MOLECULAR CHAPERONES; MUTANT PROTEINS; MUTATION, MISSENSE; NEURONAL CEROID-LIPOFUSCINOSES; PROTEIN TRANSPORT; SERINE PROTEASES; TEMPERATURE; TIME FACTORS; TRANSFECTION;

EID: 77952719610     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21251     Document Type: Article

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