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Treatment for Lysosomal Storage Disorders
Current Pharmaceutical Design, 2020Lysosomal storage disorders comprise a group of approximately 70 types of inherited diseases resulting due to lysosomal gene defects. The outcome of the defect is a deficiency in either of the three: namely, lysosomal enzymes, activator protein, or transmembrane protein, as a result of which there is an unwanted accumulation of biomolecules inside ...
Jayesh Sheth, Aadhira Nair
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2015
The lysosomal storage disorders (LSD) are genetic diseases caused by deficiency of lysosomal enzymesor other lysosomal proteins that result in chronic and progressive storage of undegraded substrates thatare frequently present in the central nervous system.
BARONE, RITA MARIA ELISA, PARINI R.
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The lysosomal storage disorders (LSD) are genetic diseases caused by deficiency of lysosomal enzymesor other lysosomal proteins that result in chronic and progressive storage of undegraded substrates thatare frequently present in the central nervous system.
BARONE, RITA MARIA ELISA, PARINI R.
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Autophagy and Lysosome Storage Disorders
2020Lysosomal storage disorders (LSDs) are one of the most common human genetic metabolic diseases caused by gene mutations. Up to now, more than 70 LSDs have been identified and mainly divided into five categories. LSDs are mainly caused by defects in the function of enzymes or lysosomal-related proteins in lysosomes, which causes progressive accumulation
Haigang, Ren, Guanghui, Wang
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Seminars in Respiratory and Critical Care Medicine
Abstract Lysosomes are intracellular organelles that are responsible for degrading and recycling macromolecules. Lysosomal diseases (LDs) are a group of rare inherited diseases caused by deleterious variants affecting genes that encode the lysosomal enzymes, their transporter or their cofactor.
Jacopo Cefalo +6 more
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Abstract Lysosomes are intracellular organelles that are responsible for degrading and recycling macromolecules. Lysosomal diseases (LDs) are a group of rare inherited diseases caused by deleterious variants affecting genes that encode the lysosomal enzymes, their transporter or their cofactor.
Jacopo Cefalo +6 more
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2017
The lysosomal storage disorders (LSDs) are a group of inborn organelle disorders, clinically heterogeneous, and biochemically characterized by accumulation of nondegraded macromolecules primarily in the lysosomal and other cellular compartments. Given the common and essential cellular function of the lysosomal system in different organs and systems ...
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The lysosomal storage disorders (LSDs) are a group of inborn organelle disorders, clinically heterogeneous, and biochemically characterized by accumulation of nondegraded macromolecules primarily in the lysosomal and other cellular compartments. Given the common and essential cellular function of the lysosomal system in different organs and systems ...
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Therapy for lysosomal storage disorders
IUBMB Life, 2009AbstractIn the last years, much progress has been achieved in the field of lysosomal storage disorders. In the past, no specific treatment was available for the affected patients; management mainly consisted of supportive care and treatment of complications.
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Treatments for lysosomal storage disorders
Biochemical Society Transactions, 2010There are over 70 human diseases that are caused by defects in various aspects of lysosomal function. Until 20 years ago, the only specific therapy available for lysosomal storage disorders was allogeneic haemopoietic stem cell transplantation. Over the last two decades, there has been remarkable progress and there are now licensed treatments for seven
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Integrative oncology: Addressing the global challenges of cancer prevention and treatment
Ca-A Cancer Journal for Clinicians, 2022Jun J Mao,, Msce +2 more
exaly
Lysosomal Storage Disorders and Iron
2013Lysosomal storage disorders are a group of about 50 rare metabolic diseases that result from defects in lysosomal function. The majority is recessively inherited and caused by mutations in genes encoding lysosomal proteins as the basis for its pathobiology.
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