Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB)

Human Mutation

Volumn 35, Issue 3, 2014, Pages 368-376

  De Pace, Raffaella ^a   Coutinho, Maria Francisca ^b,c,d   Koch Nolte, Friedrich ^a   Haag, Friedrich ^a   Prata, Maria João ^c,d   Alves, Sandra ^b   Braulke, Thomas ^a   Pohl, Sandra ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b NATIONAL INSTITUTE OF HEALTH   (Portugal)

^c UNIVERSITY OF PORTO   (Portugal)

^d Faculty of Sciences   (Portugal)

Author keywords

GNPTAB; Golgi; Lysosomal storage disorder; Mannose 6 phosphate; Site 1 protease

Indexed keywords

GLCNAC 1 PHOSPHOTRANSFERASE PRECURSOR PROTEIN; PROTEIN PRECURSOR; UNCLASSIFIED DRUG;

ARTICLE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE MICROSCOPY; MISSENSE MUTATION; MUCOLIPIDOSIS TYPE 2; PHENOTYPE; PRIORITY JOURNAL; PROTEIN CLEAVAGE; PROTEIN DEGRADATION; PROTEIN LOCALIZATION; WESTERN BLOTTING;

GNPTAB; GOLGI; LYSOSOMAL STORAGE DISORDER; MANNOSE 6-PHOSPHATE; SITE-1 PROTEASE;

ABNORMALITIES, MULTIPLE; ALLELES; ANIMALS; CHILD; CHILD, PRESCHOOL; CHO CELLS; CRICETULUS; ENDOPLASMIC RETICULUM; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; GENOTYPE; HEK293 CELLS; HELA CELLS; HUMANS; MALE; MUCOLIPIDOSES; MUTATION, MISSENSE; PHENOTYPE; PROTEOLYSIS; RNA, MESSENGER; TRANSFERASES (OTHER SUBSTITUTED PHOSPHATE GROUPS);

EID: 84893903694     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22502     Document Type: Article

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