A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV-Reference-Cited by-同舟云学术

A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV

Published:2014-08-14 Issue:1 Volume:5 Page:
ISSN:2041-1723
Container-title:Nature Communications
language:en
Short-container-title:Nat Commun

Author:

Chen Cheng-Chang,Keller Marco,Hess Martin,Schiffmann Raphael,Urban Nicole,Wolfgardt Annette,Schaefer Michael,Bracher Franz,Biel Martin,Wahl-Schott Christian,Grimm Christian

Publisher

Springer Science and Business Media LLC

Subject

General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry

Link

http://www.nature.com/articles/ncomms5681.pdf

Reference49 articles.

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2. Schiffmann, R. et al. Constitutive achlorhydria in mucolipidosis type IV. Proc. Natl Acad. Sci. USA 95, 1207–1212 (1998).

3. Altarescu, G. et al. The neurogenetics of mucolipidosis type IV. Neurology 59, 306–313 (2002).

4. Smith, J. A., Chan, C. C., Goldin, E. & Schiffmann, R. Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV. Ophthalmology 109, 588–594 (2002).

5. Lubensky, I. A., Schiffmann, R., Goldin, E. & Tsokos, M. Lysosomal inclusions in gastric parietal cells in mucolipidosis type IV: a novel cause of achlorhydria and hypergastrinemia. Am. J. Surg. Pathol. 23, 1527–1531 (1999).

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