Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity

Alström Syndrome is a life-threatening disease characterized primarily by numerous metabolic abnormalities, retinal degeneration, cardiomyopathy, kidney and liver disease, and sensorineural hearing loss. The cellular localization of the affected protein, ALMS1, has suggested roles in ciliary functio...

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Veröffentlicht in:	Human molecular genetics 2011-02, Vol.20 (3), p.466-481
Hauptverfasser:	JAGGER, Daniel, COLLIN, Gayle, NAGGERT, Jürgen, FORGE, Andrew, KELLY, John, TOWERS, Emily, NEVILL, Graham, LONGO-GUESS, Chantal, BENSON, Jennifer, HALSEY, Karin, DOLAN, David, MARSHALL, Jan
Format:	Artikel
Sprache:	eng
Schlagworte:	Alstrom Syndrome - genetics Alstrom Syndrome - metabolism Alstrom Syndrome - pathology Animals Biological and medical sciences Cell Differentiation Cell Polarity Centrioles Cilia - ultrastructure Cochlea - ultrastructure Complex syndromes DNA-Binding Proteins - genetics DNA-Binding Proteins - metabolism Fluorescent Antibody Technique Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Hair Cells, Auditory - metabolism Hair Cells, Auditory - ultrastructure Hearing Loss - genetics Hearing Loss - metabolism Hearing Loss - pathology Medical genetics Medical sciences Mice Mice, Knockout Microscopy, Electron Molecular and cellular biology Organ of Corti - ultrastructure Rats Rats, Sprague-Dawley Signal Transduction Stria Vascularis - ultrastructure
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