Aberrant autophagy in lysosomal storage disorders marked by a lysosomal SNARE protein shortage due to suppression of endocytosis
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12558
Abstract: Lysosomal storage disorders (LSDs) are inherited metabolic diseases caused by genetic defects in lysosomal enzymes or related factors. LSDs are associated with excessive accumulation of natural substrates in lysosomes leading to central nervous system and… read more here.
Keywords: snare; storage disorders; lysosomal storage; endocytosis ... See more keywords
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12597
Abstract: Oligosaccharidoses, sphingolipidoses and mucolipidoses are lysosomal storage disorders (LSDs) in which defective breakdown of glycanâside chains of glycosylated proteins and glycolipids leads to the accumulation of incompletely degraded oligosaccharides within lysosomes. In metabolic laboratories, these… read more here.
Keywords: mass spectrometry; lysosomal storage; storage disorders; mass ... See more keywords
Advances in therapies for neurological Lysosomal Storage Disorders.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of inherited metabolic disease"
DOI: 10.1002/jimd.12615
Abstract: Lysosomal Storage Disorders (LSDs) are a diverse group of inherited, monogenic diseases caused by functional defects in specific lysosomal proteins. The lysosome is a cellular organelle that plays a critical role in catabolism of waste… read more here.
Keywords: therapies neurological; storage disorders; neurological lysosomal; lysosomal storage ... See more keywords
Liver Transplantation for Lysosomal Storage Disorders: A Novel Option to Pick
Sign Up to like & getrecommendations! Published in 2019 at "Liver Transplantation"
DOI: 10.1002/lt.25578
Abstract: Niemann-Pick Disease (NPD) is a rare lysosomal storage disorder. Four types are identified: type A-B (NP-A and NP-B) caused by a defect of acid sphingomyelinase (ASM), and type C-D due to a defect of cholesterol… read more here.
Keywords: liver transplantation; storage disorders; lysosomal storage; transplantation lysosomal ... See more keywords
Current and Future Treatments for Lysosomal Storage Disorders
Sign Up to like & getrecommendations! Published in 2017 at "Current Treatment Options in Neurology"
DOI: 10.1007/s11940-017-0481-2
Abstract: AbstractPurpose of review Lysosomal storage disorders (LSDs) are a class of genetic disorders that are a testing ground for the invention of novel therapeutics including enzyme replacement therapy (ERT), substrate reduction therapy (SRT), gene therapy,… read more here.
Keywords: therapy; storage disorders; lysosomal storage; gene therapy ... See more keywords
The brain lipidome in neurodegenerative lysosomal storage disorders.
Sign Up to like & getrecommendations! Published in 2018 at "Biochemical and biophysical research communications"
DOI: 10.1016/j.bbrc.2018.03.042
Abstract: Cholesterol, sphingolipids and glycerophospholipids are critical constituents of the brain, subserving neuronal membrane architecture and providing a platform for biochemical processes essential for proper neurodevelopment and function. When lysosomal defects arise in a lipid metabolic… read more here.
Keywords: lysosomal storage; neurodegenerative lysosomal; storage disorders; brain ... See more keywords
Overview of immune abnormalities in lysosomal storage disorders.
Sign Up to like & getrecommendations! Published in 2017 at "Immunology letters"
DOI: 10.1016/j.imlet.2017.07.004
Abstract: The critical relevance of the lysosomal compartment for normal cellular function can be proved by numbering the clinical phenotypes that arise in lysosomal storage disorders (LSDs), a group of around 70 different monogenic autosomal or… read more here.
Keywords: storage disorders; lysosomal storage; immune system; immune abnormalities ... See more keywords
Links between autophagy and disorders of glycogen metabolism - Perspectives on pathogenesis and possible treatments.
Sign Up to like & getrecommendations! Published in 2019 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2019.11.005
Abstract: The glycogen storage diseases are a group of inherited metabolic disorders that are characterized by specific enzymatic defects involving the synthesis or degradation of glycogen. Each disorder presents with a set of symptoms that are… read more here.
Keywords: glycogen storage; links autophagy; metabolism; glycogen ... See more keywords
Defect-free graphene enhances enzyme delivery to fibroblasts derived from patients with lysosomal storage disorders.
Sign Up to like & getrecommendations! Published in 2023 at "Nanoscale"
DOI: 10.1039/d2nr04971f
Abstract: Enzyme replacement therapy shows remarkable clinical improvement in treating lysosomal storage disorders. However, this therapeutic approach is hampered by limitations in the delivery of the enzyme to cells and tissues. Therefore, there is an urgent,… read more here.
Keywords: graphene; storage disorders; enzyme delivery; lysosomal storage ... See more keywords
Chloroquine and bafilomycin A mimic lysosomal storage disorders and impair mTORC1 signalling
Sign Up to like & getrecommendations! Published in 2020 at "Bioscience Reports"
DOI: 10.1042/bsr20200905
Abstract: Abstract Autophagy is dependent upon lysosomes, which fuse with the autophagosome to complete the autophagic process and whose acidic interior permits the activity of their intraluminal degradative enzymes. Chloroquine (CQ) and bafilomycin A1 (BafA) each… read more here.
Keywords: chloroquine bafilomycin; lysosomal storage; storage disorders; mtorc1 signalling ... See more keywords
Spectrum of Lysosomal Storage Disorders at Tertiary Centre: Retrospective Case-Record Analysis.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of pediatric genetics"
DOI: 10.1055/s-0039-3402070
Abstract: Lysosomal storage disorders (LSDs) are relatively common slow progressive inborn error of metabolism encountered by clinicians. This work intends to highlight the more common LSDs, their clinical presentation, outcome, and mutation (wherever feasible) collected from… read more here.
Keywords: disorders tertiary; lysosomal storage; analysis; spectrum lysosomal ... See more keywords