Results 81 to 90 of about 2,604,703 (185)

Lysosomal storage disease 2 - Pompe's disease

, 2008
Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are alternative names for the same metabolic disorder. It is a pan-ethnic autosomal recessive trait characterised by acid alpha-glucosidase deficiency leading to lysosomal ...
van der Ploeg, Ans T., Reuser, Arnold J. J.   +1 more
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Functional screening of lysosomal storage disorder genes identifies modifiers of alpha-synuclein neurotoxicity. [PDF]

PLoS Genet, 2023
Yu M, Ye H, De-Paula RB, Mangleburg CG, Wu T, Lee TV, Li Y, Duong D, Phillips B, Cruchaga C, Allen GI, Seyfried NT, Al-Ramahi I, Botas J, Shulman JM.   +14 more
europepmc   +1 more source

Hunter syndrome (mucopolysaccharidosis type II): Molecular mechanisms, CNS biomarkers, and emerging therapeutic strategies

Experimental and Molecular Pathology
Hunter syndrome (mucopolysaccharidosis type II, MPS II) is an X-linked lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase (IDS), leading to lysosomal accumulation of glycosaminoglycans (GAGs), dermatan sulfate and heparan sulfate ...
Amelia Michelle Sojung Moon, Hyung-Goo Kim, Sang Hoon Lee, Sang Hoon Kim, Euiyeon Lee, Mohammad Abdur Rashid, Yongkyu Park, Chong Kun Cheon, Mi-Hyeon Jang   +8 more
doaj   +1 more source

Multiplexing Iduronate-2-Sulphatase (MPS-II) into a 7-Plex Lysosomal Storage Disorder MS/MS Assay Using Cold-Induced Phase Separation. [PDF]

Int J Neonatal Screen, 2023
Courtney E, Pickens CA, Cuthbert C, Petritis K.   +3 more
europepmc   +1 more source

Lysosomal Storage Disorder: The Mechanism of Hurler Syndrome [PDF]

Hurler Syndrome is a rare pediatric neurodegenerative disorder, in which patients experience a multitude of symptoms starting around age 3. These symptoms include skeletal abnormalities, cognitive impairment, stunted growth, heart disease, and many ...
Sebastian, Maria, Ryan, Ashlyn
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Extracellular Vesicles Released by Genetically Modified Macrophages Activate Autophagy and Produce Potent Neuroprotection in Mouse Model of Lysosomal Storage Disorder, Batten Disease. [PDF]

Cells, 2023
El-Hage N, Haney MJ, Zhao Y, Rodriguez M, Wu Z, Liu M, Swain CJ, Yuan H, Batrakova EV.   +8 more
europepmc   +1 more source

The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population. [PDF]

Front Aging Neurosci, 2021
Zhao YW, Pan HX, Liu Z, Wang Y, Zeng Q, Fang ZH, Luo TF, Xu K, Wang Z, Zhou X, He R, Li B, Zhao G, Xu Q, Sun QY, Yan XX, Tan JQ, Li JC, Guo JF, Tang BS.   +19 more
europepmc   +1 more source

Deficiency in NPC2 results in disruption of mitochondria-late endosome/lysosomes contact sites and endo-lysosomal lipid dyshomeostasis

Scientific Reports
Dysfunction of the endo-lysosomal intracellular Cholesterol transporter 2 protein (NPC2) leads to the onset of Niemann–Pick Disease Type C (NPC), a lysosomal storage disorder.
Raffaele Pastore, Lihang Yao, Nathan Hatcher, Martin Helley, Janet Brownlees, Radha Desai   +5 more
doaj   +1 more source

Rescue of a lysosomal storage disorder caused by Grn loss of function with a brain penetrant progranulin biologic. [PDF]

Cell, 2021
Logan T, Simon MJ, Rana A, Cherf GM, Srivastava A, Davis SS, Low RLY, Chiu CL, Fang M, Huang F, Bhalla A, Llapashtica C, Prorok R, Pizzo ME, Calvert MEK, Sun EW, Hsiao-Nakamoto J, Rajendra Y, Lexa KW, Srivastava DB, van Lengerich B, Wang J, Robles-Colmenares Y, Kim DJ, Duque J, Lenser M, Earr TK, Nguyen H, Chau R, Tsogtbaatar B, Ravi R, Skuja LL, Solanoy H, Rosen HJ, Boeve BF, Boxer AL, Heuer HW, Dennis MS, Kariolis MS, Monroe KM, Przybyla L, Sanchez PE, Meisner R, Diaz D, Henne KR, Watts RJ, Henry AG, Gunasekaran K, Astarita G, Suh JH, Lewcock JW, DeVos SL, Di Paolo G.   +52 more
europepmc   +1 more source

Lysosomal Storage Diseases: an overview

, 2018
Lysosomal storage diseases (LSDs)are an heterogenous group rare inherited metabolic diseases caused by mutations mutations in proteins critical critical for lysosomal function.FCT PTDC/BIM-MEC/4762/2014N/
Alves, Sandra
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