Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease

Human Molecular Genetics

Volumn 12, Issue 3, 2003, Pages 257-272

  Blom, Titta S ^a   Linder, Matts D ^a   Snow, Karen ^b   Pihko, Helena ^c   Hess, Michael W ^d,e   Jokitalo, Eija ^e   Veckman, Ville ^a   Syvänen, Ann Christine ^f   Ikonen, Elina ^a  

^a NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^b MAYO CLINIC   (United States)

^c UNIVERSITY OF HELSINKI   (Finland)

^d UNIVERSITY OF INNSBRUCK   (Austria)

^e UNIVERSITY OF HELSINKI   (Finland)

^f UPPSALA UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CHOLESTEROL; LIPID BINDING PROTEIN; NUCLEOTIDE; PROTEIN NPC1; PROTEIN NPC2; RAB PROTEIN; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SUBSTITUTION; AUTOSOMAL RECESSIVE INHERITANCE; CARBOXY TERMINAL SEQUENCE; CELL ORGANELLE; CELL SURFACE; CONTROLLED STUDY; ENDOCYTOSIS; ENDOSOME; FINLAND; GENE DELETION; GENE OVEREXPRESSION; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; INFANT; INFANT DISEASE; INTRACELLULAR TRANSPORT; LIPID STORAGE; LYSOSOME; MUTATIONAL ANALYSIS; NIEMANN PICK DISEASE; NUCLEOTIDE SEQUENCE; POINT MUTATION; POPULATION RESEARCH; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN STRUCTURE; PROTEIN TARGETING; PROTEIN TRANSPORT; REVIEW; SWEDEN; TRANSPORT KINETICS; WILD TYPE;

AMINO ACID SEQUENCE; CARRIER PROTEINS; CHILD, PRESCHOOL; CONSERVED SEQUENCE; GENE FREQUENCY; GLYCOPROTEINS; HUMANS; INFANT; MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; NIEMANN-PICK DISEASES; SEQUENCE ALIGNMENT; TRANSPORT VESICLES;

EID: 0037319111     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg025     Document Type: Review

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