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[Lysosomes and lysosomal storage diseases].
Journal de la Societe de biologie, 2002Lysosomal storage disorders (LSDs) are monogenic inborn errors of metabolism. Various groups have been delineated according to the affected pathway and the accumulated substrate, and new entities are still being identified. They are severe disorders with a heterogeneous clinical spectrum encompassing visceral, skeletal and neurologic involvement, and ...
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Nihon rinsho. Japanese journal of clinical medicine, 1996
Lysosomes are the principal sites of intracellular digestion. In Lysosomes approximately 40 hydrolytic enzymes are contained. Lysosomal storage diseases are mainly caused by genetic defects that affect one or more of the lysosomal hydrolases, and result in accumulation of their undigested substrates in lysosomes, with profound pathological consequences.
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Lysosomes are the principal sites of intracellular digestion. In Lysosomes approximately 40 hydrolytic enzymes are contained. Lysosomal storage diseases are mainly caused by genetic defects that affect one or more of the lysosomal hydrolases, and result in accumulation of their undigested substrates in lysosomes, with profound pathological consequences.
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Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics
EMBO Molecular Medicine, 2009Giancarlo Parenti
exaly
Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond†‡§
Movement Disorders, 2011Anthony H. Futerman +1 more
exaly
Lysosomal Storage Disorders Shed Light on Lysosomal Dysfunction in Parkinson’s Disease
International Journal of Molecular Sciences, 2020Anthony H. Futerman +2 more
exaly