Retinal Dystrophy and Optic Nerve Pathology in the Mouse Model of Mucolipidosis IV

Mucolipidosis IV is a debilitating developmental lysosomal storage disorder characterized by severe neuromotor retardation and progressive loss of vision, leading to blindness by the second decade of life. Mucolipidosis IV is caused by loss-of-function mutations in the MCOLN1 gene, which encodes the...

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Veröffentlicht in:	The American journal of pathology 2016, Vol.186 (1), p.199-209
Hauptverfasser:	Grishchuk, Yulia, Stember, Katherine G, Matsunaga, Aya, Olivares, Ana M, Cruz, Nelly M, King, Victoria E, Humphrey, Daniel M, Wang, Shirley L, Muzikansky, Alona, Betensky, Rebecca A, Thoreson, Wallace B, Haider, Neena, Slaugenhaupt, Susan A
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Blotting, Western Disease Models, Animal Electroretinography Fluorescent Antibody Technique In Situ Nick-End Labeling Mice Mice, Inbred C57BL Mice, Knockout Mucolipidoses - complications Mucolipidoses - pathology Optic Nerve - pathology Pathology Regular Retinal Dystrophies - pathology Tomography, Optical Coherence Transient Receptor Potential Channels - deficiency Transient Receptor Potential Channels - genetics
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