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Page 1
Genetics and Therapies for GM2 Gangliosidosis.
Cachon-Gonzalez MB, Zaccariotto E, Cox TM. Cachon-Gonzalez MB, et al. Curr Gene Ther. 2018;18(2):68-89. doi: 10.2174/1566523218666180404162622. Curr Gene Ther. 2018. PMID: 29618308 Free PMC article. Review.
Sandhoff disease in the elderly: a case study.
García Morales L, Mustelier Bécquer RG, Pérez Joglar L, Zaldívar Vaillant T. García Morales L, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2022 Feb;23(1-2):137-138. doi: 10.1080/21678421.2021.1892146. Epub 2021 Mar 2. Amyotroph Lateral Scler Frontotemporal Degener. 2022. PMID: 33650927
Sandhoff disease is an infrequent, genetically caused disorder with a recessive autosomal inheritance pattern. ...Enzymatic assays demonstrated deficiency of both Hexosaminidases A and B leading to the diagnosis of Sandhoff disease....
Sandhoff disease is an infrequent, genetically caused disorder with a recessive autosomal inheritance pattern. ...Enzymatic as …
Microglial replacement in a Sandhoff disease mouse model reveals myeloid-derived beta-hexosaminidase is necessary for neuronal health.
Tsourmas KI, Butler CA, Kwang NE, Sloane ZR, Dykman KJG, Maloof GO, Choudhury BP, Paulchakrabarti M, Prekopa CA, Tabaie EZ, Krattli RP, El-Khatib SM, Swarup V, Acharya MM, Hohsfield LA, Green KN. Tsourmas KI, et al. Nat Commun. 2025 Aug 27;16(1):7994. doi: 10.1038/s41467-025-63237-0. Nat Commun. 2025. PMID: 40866328 Free PMC article.
Lysosomal storage disorders (LSDs) are a large disease class involving lysosomal dysfunction, often resulting in neurodegeneration. Sandhoff disease (SD) is an LSD caused by a deficiency in the beta subunit of the beta-hexosaminidase enzyme (Hexb). ...
Lysosomal storage disorders (LSDs) are a large disease class involving lysosomal dysfunction, often resulting in neurodegeneration. Sandh …
Metabolism of Glycosphingolipids and Their Role in the Pathophysiology of Lysosomal Storage Disorders.
Ryckman AE, Brockhausen I, Walia JS. Ryckman AE, et al. Int J Mol Sci. 2020 Sep 19;21(18):6881. doi: 10.3390/ijms21186881. Int J Mol Sci. 2020. PMID: 32961778 Free PMC article. Review.
Of the hundreds of unique GSL structures, anionic gangliosides are the most heavily implicated in the pathogenesis of lysosomal storage diseases (LSDs) such as Tay-Sachs and Sandhoff disease. Each LSD is characterized by the accumulation of GSLs in the lysosomes of …
Of the hundreds of unique GSL structures, anionic gangliosides are the most heavily implicated in the pathogenesis of lysosomal storage dise …
Natural History of Adult Patients with GM2 Gangliosidosis.
Masingue M, Dufour L, Lenglet T, Saleille L, Goizet C, Ayrignac X, Ory-Magne F, Barth M, Lamari F, Mandia D, Caillaud C, Nadjar Y. Masingue M, et al. Ann Neurol. 2020 Apr;87(4):609-617. doi: 10.1002/ana.25689. Epub 2020 Feb 7. Ann Neurol. 2020. PMID: 31995250
OBJECTIVE: GM2 gangliosidoses are lysosomal diseases due to biallelic mutations in the HEXA (Tay-Sachs disease [TS]) or HEXB (Sandhoff disease [SD]) genes, with subsequent low hexosaminidase(s) activity. Most patients have childhood onset, but some experience the fi …
OBJECTIVE: GM2 gangliosidoses are lysosomal diseases due to biallelic mutations in the HEXA (Tay-Sachs disease [TS]) or HEXB (Sandhoff …
Infantile Sandhoff disease with ventricular septal defect: a case report.
Sahyouni JK, Odeh LBM, Mulla F, Junaid S, Kar SS, Al Boot Almarri NMJ. Sahyouni JK, et al. J Med Case Rep. 2022 Aug 25;16(1):317. doi: 10.1186/s13256-022-03550-0. J Med Case Rep. 2022. PMID: 36002893 Free PMC article.
BACKGROUND: Infantile Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells in the brain and spinal cord, and is classified under lysosomal storage disorder. ...CONCLUSION: Though early cardiac involvement can be seen with novel mutat …
BACKGROUND: Infantile Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells in the brain and s …
Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.
Tim-Aroon T, Wichajarn K, Katanyuwong K, Tanpaiboon P, Vatanavicharn N, Sakpichaisakul K, Kongkrapan A, Eu-Ahsunthornwattana J, Thongpradit S, Moolsuwan K, Satproedprai N, Mahasirimongkol S, Lerksuthirat T, Suktitipat B, Jinawath N, Wattanasirichaigoon D. Tim-Aroon T, et al. BMC Pediatr. 2021 Jan 7;21(1):22. doi: 10.1186/s12887-020-02481-3. BMC Pediatr. 2021. PMID: 33407268 Free PMC article.
BACKGROUND: Sandhoff disease (SD) is an autosomal recessive lysosomal storage disorder, resulting in accumulation of GM2 ganglioside, particular in neuronal cells. ...
BACKGROUND: Sandhoff disease (SD) is an autosomal recessive lysosomal storage disorder, resulting in accumulation of GM2 gangl …
Intracerebroventricular administration of a modified hexosaminidase ameliorates late-stage neurodegeneration in a GM2 mouse model.
Lopez ME, Wendt D, Lawrence R, Gong K, Ong H, Yip B, Chen J, Mangini L, Handyside B, Giaramita A, Lamichhane A, Lo M, Agrawal V, Van Vleet J, Abolhesn A, Felix JB, Villalpando I, Bhat V, De Angelis R, Ru Y, Khan A, Fong S, Christianson T, Bullens S, Crawford BE, Bunting S, Aoyagi-Scharber M. Lopez ME, et al. PLoS One. 2025 Jan 3;20(1):e0315005. doi: 10.1371/journal.pone.0315005. eCollection 2025. PLoS One. 2025. PMID: 39752451 Free PMC article.
The GM2 gangliosidoses, Tay-Sachs disease and Sandhoff disease, are devastating neurodegenerative disorders caused by beta-hexosaminidase A (HexA) deficiency. In the Sandhoff disease mouse model, rescue potential was severely reduced when HexA was intr …
The GM2 gangliosidoses, Tay-Sachs disease and Sandhoff disease, are devastating neurodegenerative disorders caused by beta-hex …
Microcephaly in infantile Sandhoff's disease.
Maulik K, Kumar S, Singh P, Saini AG. Maulik K, et al. BMJ Case Rep. 2017 Jun 24;2017:bcr2017220912. doi: 10.1136/bcr-2017-220912. BMJ Case Rep. 2017. PMID: 28647713 Free PMC article. No abstract available.
44 results