465 related articles for article (PubMed ID: 11461186)
1. Mucolipidosis type IV.
Bach G
Mol Genet Metab; 2001 Jul; 73(3):197-203. PubMed ID: 11461186
[TBL] [Abstract][Full Text] [Related]
2. Identification of the gene causing mucolipidosis type IV.
Bargal R; Avidan N; Ben-Asher E; Olender Z; Zeigler M; Frumkin A; Raas-Rothschild A; Glusman G; Lancet D; Bach G
Nat Genet; 2000 Sep; 26(1):118-23. PubMed ID: 10973263
[TBL] [Abstract][Full Text] [Related]
3. The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations.
Bach G; Webb MB; Bargal R; Zeigler M; Ekstein J
Hum Mutat; 2005 Dec; 26(6):591. PubMed ID: 16287144
[TBL] [Abstract][Full Text] [Related]
4. The molecular basis of mucolipidosis type IV.
Slaugenhaupt SA
Curr Mol Med; 2002 Aug; 2(5):445-50. PubMed ID: 12125810
[TBL] [Abstract][Full Text] [Related]
5. Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation.
Tüysüz B; Goldin E; Metin B; Korkmaz B; Yalçinkaya C
Brain Dev; 2009 Oct; 31(9):702-5. PubMed ID: 19006653
[TBL] [Abstract][Full Text] [Related]
6. Mucolipidosis type IV: the origin of the disease in the Ashkenazi Jewish population.
Raas-Rothschild A; Bargal R; DellaPergola S; Zeigler M; Bach G
Eur J Hum Genet; 1999; 7(4):496-8. PubMed ID: 10352940
[TBL] [Abstract][Full Text] [Related]
7. A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2.
Acierno JS; Kennedy JC; Falardeau JL; Leyne M; Bromley MC; Colman MW; Sun M; Bove C; Ashworth LK; Chadwick LH; Schiripo T; Ma S; Goldin E; Schiffmann R; Slaugenhaupt SA
Genomics; 2001 Apr; 73(2):203-10. PubMed ID: 11318610
[TBL] [Abstract][Full Text] [Related]
8. Mucolipidosis type IV and the mucolipins.
Bach G; Zeevi DA; Frumkin A; Kogot-Levin A
Biochem Soc Trans; 2010 Dec; 38(6):1432-5. PubMed ID: 21118102
[TBL] [Abstract][Full Text] [Related]
9. Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.
Bargal R; Avidan N; Olender T; Ben Asher E; Zeigler M; Raas-Rothschild A; Frumkin A; Ben-Yoseph O; Friedlender Y; Lancet D; Bach G
Hum Mutat; 2001 May; 17(5):397-402. PubMed ID: 11317355
[TBL] [Abstract][Full Text] [Related]
10. Mucolipin 1: endocytosis and cation channel--a review.
Bach G
Pflugers Arch; 2005 Oct; 451(1):313-7. PubMed ID: 15570434
[TBL] [Abstract][Full Text] [Related]
11. Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel.
Raychowdhury MK; González-Perrett S; Montalbetti N; Timpanaro GA; Chasan B; Goldmann WH; Stahl S; Cooney A; Goldin E; Cantiello HF
Hum Mol Genet; 2004 Mar; 13(6):617-27. PubMed ID: 14749347
[TBL] [Abstract][Full Text] [Related]
12. Mucolipidosis type IV: a mild form with late onset.
Reis S; Sheffer RN; Merin S; Luder AS; Bach G
Am J Med Genet; 1993 Sep; 47(3):392-4. PubMed ID: 8135288
[TBL] [Abstract][Full Text] [Related]
13. Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin.
Bargal R; Goebel HH; Latta E; Bach G
Neuropediatrics; 2002 Aug; 33(4):199-202. PubMed ID: 12368990
[TBL] [Abstract][Full Text] [Related]
14. Mucolipidosis type IV: an update.
Wakabayashi K; Gustafson AM; Sidransky E; Goldin E
Mol Genet Metab; 2011 Nov; 104(3):206-13. PubMed ID: 21763169
[TBL] [Abstract][Full Text] [Related]
15. Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV.
LaPlante JM; Ye CP; Quinn SJ; Goldin E; Brown EM; Slaugenhaupt SA; Vassilev PM
Biochem Biophys Res Commun; 2004 Oct; 322(4):1384-91. PubMed ID: 15336987
[TBL] [Abstract][Full Text] [Related]
16. Mucolipidosis type IV a rare genetic disorder: new addition to the Ashkenazi Jewish panel.
Gordon RM; Marchese T
J Midwifery Womens Health; 2004; 49(4):359-60. PubMed ID: 15236718
[TBL] [Abstract][Full Text] [Related]
17. A potentially dynamic lysosomal role for the endogenous TRPML proteins.
Zeevi DA; Frumkin A; Offen-Glasner V; Kogot-Levin A; Bach G
J Pathol; 2009 Oct; 219(2):153-62. PubMed ID: 19557826
[TBL] [Abstract][Full Text] [Related]
18. Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV.
Bassi MT; Manzoni M; Monti E; Pizzo MT; Ballabio A; Borsani G
Am J Hum Genet; 2000 Nov; 67(5):1110-20. PubMed ID: 11013137
[TBL] [Abstract][Full Text] [Related]
19. Lysosomal exocytosis is impaired in mucolipidosis type IV.
LaPlante JM; Sun M; Falardeau J; Dai D; Brown EM; Slaugenhaupt SA; Vassilev PM
Mol Genet Metab; 2006 Dec; 89(4):339-48. PubMed ID: 16914343
[TBL] [Abstract][Full Text] [Related]
20. Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.
Edelmann L; Dong J; Desnick RJ; Kornreich R
Am J Hum Genet; 2002 Apr; 70(4):1023-7. PubMed ID: 11845410
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]