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Mucolipidosis type IV.
Bach G. Bach G. Mol Genet Metab. 2001 Jul;73(3):197-203. doi: 10.1006/mgme.2001.3195. Mol Genet Metab. 2001. PMID: 11461186 Review.
Mucolipidosis type IV (MLIV) is a neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmological abnormalities, including corneal opacities, retinal degeneration, and strabismus. ...
Mucolipidosis type IV (MLIV) is a neurodegenerative lysosomal storage disorder characterized by psychomotor retardation …
Mucolipidosis type IV and the mucolipins.
Bach G, Zeevi DA, Frumkin A, Kogot-Levin A. Bach G, et al. Biochem Soc Trans. 2010 Dec;38(6):1432-5. doi: 10.1042/BST0381432. Biochem Soc Trans. 2010. PMID: 21118102
MLIV (mucolipidosis type IV) is a neurodegenerative lysosomal storage disorder caused by mutations in MCOLN1, a gene that encodes TRPML1 (mucolipin-1), a member of the TRPML (transient receptor potential mucolipin) cation channels. ...
MLIV (mucolipidosis type IV) is a neurodegenerative lysosomal storage disorder caused by mutations in MCOLN1, a gene th …
Quantitative neuroimaging in mucolipidosis type IV.
Schiffmann R, Mayfield J, Swift C, Nestrasil I. Schiffmann R, et al. Mol Genet Metab. 2014 Feb;111(2):147-51. doi: 10.1016/j.ymgme.2013.11.007. Epub 2013 Nov 21. Mol Genet Metab. 2014. PMID: 24332805 Free PMC article. Clinical Trial.
Mucolipidosis type IV (MLIV) is an autosomal recessive disorder resulting from mutations in the MCOLN1 gene. ...
Mucolipidosis type IV (MLIV) is an autosomal recessive disorder resulting from mutations in the MCOLN1 gene. ...
Shared facial phenotype of patients with mucolipidosis type IV: A clinical observation reaffirmed by next generation phenotyping.
Pode-Shakked B, Finezilber Y, Levi Y, Liber S, Fleischer N, Greenbaum L, Raas-Rothschild A. Pode-Shakked B, et al. Eur J Med Genet. 2020 Jul;63(7):103927. doi: 10.1016/j.ejmg.2020.103927. Epub 2020 Apr 13. Eur J Med Genet. 2020. PMID: 32298796
BACKGROUND: Mucolipidosis type IV (ML-IV) is a rare autosomal-recessive lysosomal storage disease, caused by mutations in MCOLN1. ...
BACKGROUND: Mucolipidosis type IV (ML-IV) is a rare autosomal-recessive lysosomal storage disease, caused by mutations …
Mucolipidosis type IV: characteristic MRI findings.
Frei KP, Patronas NJ, Crutchfield KE, Altarescu G, Schiffmann R. Frei KP, et al. Neurology. 1998 Aug;51(2):565-9. doi: 10.1212/wnl.51.2.565. Neurology. 1998. PMID: 9710036
OBJECTIVE: The objective of this study is to characterize the brain abnormalities on head MRI of patients with mucolipidosis type IV. BACKGROUND: Mucolipidosis type IV is an autosomal recessive lysosomal storage disease of unknown etiolog …
OBJECTIVE: The objective of this study is to characterize the brain abnormalities on head MRI of patients with mucolipidosis type …
Mucolipidosis Type IV in Omani Families with a Novel MCOLN1 Mutation: Search for Evidence of Founder Effect.
Al-Alawi B, Harikrishna B, Al-Thihli K, Al Zuhabi S, Ganesh A, Al Hashami Z, Al Dhamhmani Z, Zadjali R, Al Riyami NB, Zadjali F. Al-Alawi B, et al. Genes (Basel). 2022 Jan 28;13(2):248. doi: 10.3390/genes13020248. Genes (Basel). 2022. PMID: 35205297 Free PMC article.
Mucolipidosis Type IV (MLIV) is caused by a deficiency of the mucolipin cation channel encoded by Mucolipin TRP Cation Channel 1 gene (MCOLN1). ...
Mucolipidosis Type IV (MLIV) is caused by a deficiency of the mucolipin cation channel encoded by Mucolipin TRP Cation …
Molecular and cellular basis of lysosomal transmembrane protein dysfunction.
Ruivo R, Anne C, Sagné C, Gasnier B. Ruivo R, et al. Biochim Biophys Acta. 2009 Apr;1793(4):636-49. doi: 10.1016/j.bbamcr.2008.12.008. Epub 2008 Dec 24. Biochim Biophys Acta. 2009. PMID: 19146888 Free article. Review.
However, the mechanism leading to lysosomal storage and neurodegeneration remains unclear. Mucolipidosis type IV is caused by mutations of a lysosomal cation channel named TRPML1; its gating properties are still poorly understood and the ion species linking t …
However, the mechanism leading to lysosomal storage and neurodegeneration remains unclear. Mucolipidosis type IV is cau …
Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV.
Smith JA, Chan CC, Goldin E, Schiffmann R. Smith JA, et al. Ophthalmology. 2002 Mar;109(3):588-94. doi: 10.1016/s0161-6420(01)00968-x. Ophthalmology. 2002. PMID: 11874766
OBJECTIVE: To comprehensively describe the ophthalmic characteristics of patients with mucolipidosis type IV. DESIGN: Prospective natural history study. PARTICIPANTS: Twenty-two patients with confirmed mucolipidosis type IV. ...Conjunctiv …
OBJECTIVE: To comprehensively describe the ophthalmic characteristics of patients with mucolipidosis type IV. DESIGN: P …
The neurogenetics of mucolipidosis type IV.
Altarescu G, Sun M, Moore DF, Smith JA, Wiggs EA, Solomon BI, Patronas NJ, Frei KP, Gupta S, Kaneski CR, Quarrell OW, Slaugenhaupt SA, Goldin E, Schiffmann R. Altarescu G, et al. Neurology. 2002 Aug 13;59(3):306-13. doi: 10.1212/wnl.59.3.306. Neurology. 2002. PMID: 12182165
BACKGROUND: Mucolipidosis type IV (MLIV) is an autosomal recessive disease caused by mutations in the MCOLN1 gene that codes for mucolipin, a member of the transient receptor potential (TRP) gene family. ...
BACKGROUND: Mucolipidosis type IV (MLIV) is an autosomal recessive disease caused by mutations in the MCOLN1 gene that …
Lysosomal Ca(2+) homeostasis: role in pathogenesis of lysosomal storage diseases.
Lloyd-Evans E, Platt FM. Lloyd-Evans E, et al. Cell Calcium. 2011 Aug;50(2):200-5. doi: 10.1016/j.ceca.2011.03.010. Epub 2011 Jul 2. Cell Calcium. 2011. PMID: 21724254 Review.
In contrast, Chediak-Higashi Syndrome cells have been reported to have enhanced lysosomal Ca(2+) uptake whilst the TRPML1 protein defective in mucolipidosis type IV is believed to function as a Ca(2+) channel. In this review we provide a summary of the curren …
In contrast, Chediak-Higashi Syndrome cells have been reported to have enhanced lysosomal Ca(2+) uptake whilst the TRPML1 protein defective …
21 results