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2023 15
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Innate immune sensing of lysosomal dysfunction drives multiple lysosomal storage disorders.
Wang A, Chen C, Mei C, Liu S, Xiang C, Fang W, Zhang F, Xu Y, Chen S, Zhang Q, Bai X, Lin A, Neculai D, Xia B, Ye C, Zou J, Liang T, Feng XH, Li X, Shen C, Xu P. Wang A, et al. Nat Cell Biol. 2024 Feb;26(2):219-234. doi: 10.1038/s41556-023-01339-x. Epub 2024 Jan 22. Nat Cell Biol. 2024. PMID: 38253667
Genetic ablation of cGAS or STING, digestion of neuronal cytosolic dsDNA by DNase, and repair of neuronal lysosomal dysfunction alleviated symptoms of Sandhoff disease, Fabry disease and Niemann-Pick disease, with substantially reduced neuronal loss. We there …
Genetic ablation of cGAS or STING, digestion of neuronal cytosolic dsDNA by DNase, and repair of neuronal lysosomal dysfunction alleviated s …
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
Bremova-Ertl T, Ramaswami U, Brands M, Foltan T, Gautschi M, Gissen P, Gowing F, Hahn A, Jones S, Kay R, Kolnikova M, Arash-Kaps L, Marquardt T, Mengel E, Park JH, Reichmannová S, Schneider SA, Sivananthan S, Walterfang M, Wibawa P, Strupp M, Martakis K. Bremova-Ertl T, et al. N Engl J Med. 2024 Feb 1;390(5):421-431. doi: 10.1056/NEJMoa2310151. N Engl J Med. 2024. PMID: 38294974 Clinical Trial.
BACKGROUND: Niemann-Pick disease type C is a rare lysosomal storage disorder. We evaluated the safety and efficacy of N-acetyl-l-leucine (NALL), an agent that potentially ameliorates lysosomal and metabolic dysfunction, for the treatment of Niemann- …
BACKGROUND: Niemann-Pick disease type C is a rare lysosomal storage disorder. We evaluated the safety and efficacy of N …
N-acetyl-L-leucine for Niemann-Pick type C: a multinational double-blind randomized placebo-controlled crossover study.
Fields T, M Bremova T, Billington I, Churchill GC, Evans W, Fields C, Galione A, Kay R, Mathieson T, Martakis K, Patterson M, Platt F, Factor M, Strupp M. Fields T, et al. Trials. 2023 May 29;24(1):361. doi: 10.1186/s13063-023-07399-6. Trials. 2023. PMID: 37248494 Free PMC article. Clinical Trial.
BACKGROUND: Niemann-Pick disease type C (NPC) is a rare autosomal recessive neurodegenerative lysosomal disease characterized by multiple symptoms such as progressive cerebellar ataxia and cognitive decline. ...
BACKGROUND: Niemann-Pick disease type C (NPC) is a rare autosomal recessive neurodegenerative lysosomal disease charact …
The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review.
Tirelli C, Rondinone O, Italia M, Mira S, Belmonte LA, De Grassi M, Guido G, Maggioni S, Mondoni M, Miozzo MR, Centanni S. Tirelli C, et al. Biomolecules. 2024 Feb 11;14(2):211. doi: 10.3390/biom14020211. Biomolecules. 2024. PMID: 38397448 Free PMC article. Review.
Niemann-Pick Disease (NPD) is a rare autosomal recessive disease belonging to lysosomal storage disorders. ...
Niemann-Pick Disease (NPD) is a rare autosomal recessive disease belonging to lysosomal storage disorders. ...
Arimoclomol: First Approval.
Keam SJ. Keam SJ. Drugs. 2025 Jan;85(1):111-116. doi: 10.1007/s40265-024-02129-x. Epub 2024 Dec 24. Drugs. 2025. PMID: 39715913 Review.
Arimoclomol (MIPLYFFA ), an oral small molecule that crosses the blood brain barrier and is thought to upregulate CLEAR (Coordinated Lysosomal Expression and Regulation) network genes and improve lysosomal function, is being developed by Zevra Therapeutics Inc., for the treatment …
Arimoclomol (MIPLYFFA ), an oral small molecule that crosses the blood brain barrier and is thought to upregulate CLEAR (Coordinated Lysosom …
Evidence of Oxytosis/Ferroptosis in Niemann-Pick Disease Type C.
Sanchez KL, Kim J, White JB, Tolan A, Rajagopal NP, Anderson DW, Shin AN, Shin SD, Currais A, Soriano-Castell D, Maher P, Soriano S. Sanchez KL, et al. Int J Mol Sci. 2025 Mar 23;26(7):2915. doi: 10.3390/ijms26072915. Int J Mol Sci. 2025. PMID: 40243519 Free PMC article.
Niemann-Pick Disease Type C (NPC) is a hereditary neurodegenerative disease characterized by selective cell vulnerability, particularly affecting cerebellar anterior Purkinje neurons. ...
Niemann-Pick Disease Type C (NPC) is a hereditary neurodegenerative disease characterized by selective cell vulnerabili …
Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1.
Mishra S, Kell P, Scherrer D, Dietzen DJ, Vite CH, Berry-Kravis E, Davidson C, Cologna SM, Porter FD, Ory DS, Jiang X. Mishra S, et al. J Lipid Res. 2024 Aug;65(8):100600. doi: 10.1016/j.jlr.2024.100600. Epub 2024 Jul 22. J Lipid Res. 2024. PMID: 39048052 Free PMC article.
Lysosomal function is impaired in Niemann-Pick disease type C1 (NPC1), a rare and inherited neurodegenerative disorder, resulting in late endosomal/lysosomal accumulation of unesterified cholesterol. ...
Lysosomal function is impaired in Niemann-Pick disease type C1 (NPC1), a rare and inherited neurodegenerative disorder, …
Retention of lysosomal acid sphingomyelinase protects from Niemann-Pick Disease.
Beard CA, Hermanson KN, Snider JM, Hara A, Dahl BK, Allopenna JJ, Marron MT, Newcomb B, Low BE, Wiles MV, Jenkins RW, Obeid LM, Hannun YA, Snider AJ. Beard CA, et al. Neurobiol Dis. 2025 Nov;216:107147. doi: 10.1016/j.nbd.2025.107147. Epub 2025 Oct 15. Neurobiol Dis. 2025. PMID: 41106691 Free PMC article.
Niemann-Pick Disease (NPD) types A and B are lysosomal storage disorders resulting from dysfunction or loss of acid sphingomyelinase (aSMase), which hydrolyzes sphingomyelin (SM) to ceramide and phosphocholine. ...
Niemann-Pick Disease (NPD) types A and B are lysosomal storage disorders resulting from dysfunction or loss of acid sph …
Mechanistic insights into arimoclomol mediated effects on lysosomal function in Niemann-pick type C disease.
Shammas H, Kloster Fog C, Klein P, Koustrup A, Pedersen MT, Bie AS, Mickle T, Petersen NHT, Kirkegaard Jensen T, Guenther S. Shammas H, et al. Mol Genet Metab. 2025 May;145(1):109103. doi: 10.1016/j.ymgme.2025.109103. Epub 2025 Apr 2. Mol Genet Metab. 2025. PMID: 40215728 Free article.
Niemann-Pick disease type C (NPC) is an ultra-rare, fatal neurodegenerative disease. It is characterized by lysosomal dysfunction with cytotoxic accumulation of unesterified cholesterol and glycosphingolipids in lysosomes, which causes neurodegeneration and p …
Niemann-Pick disease type C (NPC) is an ultra-rare, fatal neurodegenerative disease. It is characterized by lysosomal d …
68 results