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Page 1
Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.
Tamhankar PM, Mistri M, Kondurkar P, Sanghavi D, Sheth J. Tamhankar PM, et al. J Hum Genet. 2016 Feb;61(2):163-6. doi: 10.1038/jhg.2015.130. Epub 2015 Nov 19. J Hum Genet. 2016. PMID: 26582265
Sandhoff disease (SD) is an autosomal recessive neurodegenerative lysosomal storage disorder caused by mutations in HEXB gene. ...
Sandhoff disease (SD) is an autosomal recessive neurodegenerative lysosomal storage disorder caused by mutations in HEXB gene. …
P. Ala278Val mutation might cause a pathogenic defect in HEXB folding leading to the Sandhoff disease.
Rahmani Z, Banisadr A, Ghodsinezhad V, Dibaj M, Aryani O. Rahmani Z, et al. Metab Brain Dis. 2022 Dec;37(8):2669-2675. doi: 10.1007/s11011-021-00669-9. Epub 2022 Oct 3. Metab Brain Dis. 2022. PMID: 36190588
Sandhoff disease is a rare neurodegenerative and autosomal recessive disorder, which is characterized by a defect in ganglioside metabolism. ...
Sandhoff disease is a rare neurodegenerative and autosomal recessive disorder, which is characterized by a defect in gangliosi …
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 …
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 …
Life-Limiting Peripheral Organ Dysfunction in Feline Sandhoff Disease Emerges after Effective CNS Gene Therapy.
Johnson AK, McCurdy VJ, Gray-Edwards HL, Maguire AS, Cochran JN, Gross AL, Skinner HE, Randle AN, Shirley JL, Brunson BL, Bradbury AM, Leroy SG, Hwang M, Rockwell HE, Cox NR, Baker HJ, Seyfried TN, Sena-Esteves M, Martin DR. Johnson AK, et al. Ann Neurol. 2023 Nov;94(5):969-986. doi: 10.1002/ana.26756. Epub 2023 Aug 16. Ann Neurol. 2023. PMID: 37526361 Free PMC article.
Ganglioside storage was reduced throughout the brain and spinal cord, with near complete clearance in many regions. While untreated cats with Sandhoff disease lived for 4.4 0.6 months, AAV-treated cats lived to 19.1 8.6 months, and 3 of 9 cats lived >21 months. . …
Ganglioside storage was reduced throughout the brain and spinal cord, with near complete clearance in many regions. While untreated cats wit …
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 …
39 results