A block of autophagy in lysosomal storage disorders

Most lysosomal storage disorders (LSDs) are caused by deficiencies of lysosomal hydrolases. While LSDs were among the first inherited diseases for which the underlying biochemical defects were identified, the mechanisms from enzyme deficiency to cell death are poorly understood. Here we show that ly...

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Bibliographic Details
Published in:	Human molecular genetics Vol. 17; no. 1; p. 119
Main Authors:	Settembre, Carmine, Fraldi, Alessandro, Jahreiss, Luca, Spampanato, Carmine, Venturi, Consuelo, Medina, Diego, de Pablo, Raquel, Tacchetti, Carlo, Rubinsztein, David C, Ballabio, Andrea
Format:	Journal Article
Language:	English
Published:	England 01.01.2008
Subjects:	Animals Autophagy - genetics Autophagy - physiology Base Sequence Cells, Cultured DNA Primers - genetics Humans Lysosomal Storage Diseases - genetics Lysosomal Storage Diseases - pathology Lysosomal Storage Diseases - physiopathology Lysosomal Storage Diseases, Nervous System - genetics Lysosomal Storage Diseases, Nervous System - pathology Lysosomal Storage Diseases, Nervous System - physiopathology Lysosomes - pathology Membrane Fusion Mice Microtubule-Associated Proteins - genetics Microtubule-Associated Proteins - metabolism Mitochondria - pathology Mucopolysaccharidosis III - genetics Mucopolysaccharidosis III - pathology Mucopolysaccharidosis III - physiopathology Multiple Sulfatase Deficiency Disease - genetics Multiple Sulfatase Deficiency Disease - pathology Multiple Sulfatase Deficiency Disease - physiopathology Nerve Degeneration - genetics Nerve Degeneration - pathology Nerve Degeneration - physiopathology Phagosomes - pathology Transfection Ubiquitination
ISSN:	0964-6906
Online Access:	Get more information
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