Cloning of the gene encoding a novel integral membrane protein, mucolipidin - And identification of the two major founder mutations causing mucolipidosis type IV

American Journal of Human Genetics

Volumn 67, Issue 5, 2000, Pages 1110-1120

  Bassi, Maria T ^a   Manzoni, Marta ^a   Monti, Eugenio ^a,c   Pizzo, Maria T ^a   Ballabio, Andrea ^a,b   Borsani, Giuseppe ^a  

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^b VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^c UNIVERSITY OF BRESCIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; POLYCYSTIN; PROTEIN MUCOLIPIDIN; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELLULAR DISTRIBUTION; CLINICAL FEATURE; CONTROLLED STUDY; CORNEA OPACITY; ENDOCYTOSIS; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; MOLECULAR CLONING; MUCOLIPIDOSIS; MUCOLIPIDOSIS TYPE IV; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN TRANSPORT; PSYCHOMOTOR RETARDATION; RETINA DEGENERATION; SEQUENCE HOMOLOGY; STRABISMUS;

EID: 0033760264     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9297(07)62941-3     Document Type: Article

References (30)

1. Gapped BLAST and PSIBLAST: A new generation of protein database search programs
2. Mucolipidosis type IV: Clinical spectrum and natural history
3. How to get the best of dbEST
4. Identification of the gene causing mucolipidosis type IV
5. Phospholipids accumulation in mucolipidosis IV cultured fibroblasts
6. Phosphatidylcholine storage in mucolipidosis IV
7. Mucolipidosis type IV: Abnormal transport of lipids to lysosomes
8. Congenital corneal clouding with abnormal systemic storage bodies: A new variant of mucolipidosis
9. On the molecular basis and regulation of cellular capacitative calcium entry: Roles for Trp proteins
10. dbEST - Database for 'expressed sequence tags'
11. A practical guide to orient yourself in the labyrinth of genome databases
12. Identification and characterization of polycystin-2, the PKD2 gene product
13. Compromised cytoarchitecture and polarized trafficking in autosomal dominant polycystic kidney disease cells
14. Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease
15. Mucolipidosis IV: Morphology and histochemistry of an autopsy case
16. Cultured skin fibroblasts derived from patients with mucolipidosis 4 are auto-fluorescent
17. From worm to man: Three subfamilies of TRP channels
18. Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNAs
19. A simple method for displaying the hydropathic character of a protein
20. Protein kinase calpha targeting is regulated by temporal and spatial changes in intracellular free calcium concentration [Ca(2+)](i)
21. 'DNA Strider': A 'C' program for the fast analysis of DNA and protein sequences on the Apple Macintosh family of computers
22. The role of intraorganellar Ca(2+) in late endosome-lysosome heterotypic fusion and in the reformation of lysosomes from hybrid organelles
23. Capacitative calcium entry channels
24. Mucolipidosis type IV: The origin of the disease in the Ashkenazi Jewish population
25. Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes
26. Mucolipidosis IV: Clinical, ultrastructural, histochemical, and chemical studies of a case, including a brain biopsy
27. CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice
28. Protein kinase C activation and phosphate uptake are altered in intact mucolipidosis type-4 skin fibroblasts
29. trp, a novel mammalian gene family essential for agonist-activated capacitative Ca2+ entry