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Lysosomal Biogenesis in Lysosomal Storage Disorders
Experimental Cell Research, 1997 Lysosomal biogenesis is an orchestration of the structural and functional elements of the lysosome to form an integrated organelle and involves the synthesis, targeting, functional residence, and turnover of the proteins that comprise the lysosome. We have investigated lysosomal biogenesis during the formation and dissipation of storage vacuoles in two
Karageorgos, L. +6 more
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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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Receiving Enzyme Replacement Therapy for a Lysosomal Storage Disorder: A Preliminary Exploration of the Experiences of Young Patients and Their Families [PDF]
Journal of Genetic Counseling, 2013 Medical intervention for lysosomal storage disorders becomes part of life, shaping the reality of the condition for affected individuals and families. Enzyme replacement therapy (ERT) is available to treat some lysosomal storage disorders.
Robert Freedman
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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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Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences, 2014
Lysosomal storage disorders (LSDs) are genetic defects caused by lysosomal hydrolase deficiencies. These deficiencies lead to substrate accumulation affecting cells, tissues and organs. Detecting abnormal compound excretion and deficient enzymes assist diagnosis of these disorders for treatment and prevention.
T. Andrew Burrow, Gregory A. Grabowski
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Lysosomal storage disorders (LSDs) are genetic defects caused by lysosomal hydrolase deficiencies. These deficiencies lead to substrate accumulation affecting cells, tissues and organs. Detecting abnormal compound excretion and deficient enzymes assist diagnosis of these disorders for treatment and prevention.
T. Andrew Burrow, Gregory A. Grabowski
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Journal of Pediatrics, 2009 We compared substrate reduction in patients with lysosomal storage disorder treated with hematopoietic stem cell transplant and found that it was significantly reduced compared with patients treated with pharmacological enzyme replacement therapy.
J Ed Wraith, Jean Mercer, Anne O'Meara
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2021
Abstract Lysosomes are membrane-bound organelles that degrade various macromolecules. Lysosomal storage diseases are a clinically, enzymatically, and genetically heterogeneous group of disorders resulting from intracellular accumulation of substrates.
Angela Sun +3 more
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Abstract Lysosomes are membrane-bound organelles that degrade various macromolecules. Lysosomal storage diseases are a clinically, enzymatically, and genetically heterogeneous group of disorders resulting from intracellular accumulation of substrates.
Angela Sun +3 more
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The Neuroimmune Landscape of the Lysosomal Storage Disorder Sanfilippo Syndrome [PDF]
BioEssaysLysosomal storage disorders (LSDs) such as Sanfilippo syndrome (Mucopolysaccharidosis type III) are characterized by impaired lysosomal degradation due to inherited in lysosomal proteins.
Johannes C M Schlachetzki
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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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