Results 61 to 70 of about 2,604,703 (185)
, 2021 Lysosomal storage disease (LSD) is an inherited metabolic disorder caused by enzyme deficiency in lysosomes. Some treatments for LSD can slow progression, but there are no effective treatments to restore the pathological phenotype to normal levels ...
Sang Chul Park +5 more
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A European Consortium for Lysosomal Storage Diseases
, 2008 Lysosomes are membrane-enclosed compartments, filled with hydrolytic enzymes that are used for the degradation of macromolecules. Proteins and other substrates are delivered to the lysosomes by various pathways including endocytosis, and autophagy, a ...
ANDRIA, GENEROSO
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Lysosomal Storage Disease [PDF]
, 2012 How to Cite this Article: Ghofrani M. Lysosomal Storage Disease. Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1):1-2. For Reading more pls see PDF
GHOFRANI, Mohammad
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Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study
, 2022 Lysosomal acid lipase (LAL) is a lysosomal enzyme essential for the degradation of cholesteryl esters through the endocytic pathway. Deficiency of the LAL enzyme encoded by the LIPA gene leads to LAL deficiency (LAL-D) (OMIM 278000), one of the lysosomal
Mashima, Ryuichi +3 more
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Stem Cell ResearchFree sialic acid storage disorder (FSASD) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic mutations in SLC17A5, encoding the lysosomal transmembrane sialic acid exporter, SLC17A5.
Marya S. Sabir +10 more
doaj +1 more source
, 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.
O'Meara, Anne +7 more
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Relationship of Lysosomal Storage Diseases (LSD) with Autophagy [PDF]
, 1986 Lysosomes are organelles that degrade damaged components or structures that have completed their functions and have roles in the last step of the autophagy pathway. Damage of the autophagy-lysosome pathway can cause vital problems for the cell. Lysosomal
Orbak, Zerrin +8 more
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Cholesterol Ester Storage Disease in Two Field Spaniels With Lysosomal Acid Lipase Deficiency
Journal of Veterinary Internal MedicineCholesterol ester storage disease (CESD) is a rare genetic lysosomal storage disorder resulting from lower lysosomal acid lipase (LAL) activity. LAL is an essential enzyme required in intracellular lipid metabolism, and deficiency results in disability ...
Pernilla Syrjä +7 more
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The analysis of a mouse model of Lysosomal Storage Disorder uncovers a role for astrocyte dysfunction in neurodegeneration [PDF]
, 2012 Astrocytes are the most abundant cellular population in the brain and their role in neurodegenerative processes is becoming increasingly appreciated.
Di Malta, Chiara
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Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II
EMBO Molecular Medicine, 2013 Mucolipidosis type II (MLII) is a severe multi‐systemic genetic disorder caused by missorting of lysosomal proteins and the subsequent lysosomal storage of undegraded macromolecules.
Katrin Kollmann +14 more
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