Results 11 to 20 of about 20,780 (190)

AAV gene therapy for Tay-Sachs disease. [PDF]

Nat Med, 2022
Tay-Sachs disease (TSD) is an inherited neurological disorder caused by deficiency of hexosaminidase A (HexA). Here, we describe an adeno-associated virus (AAV) gene therapy expanded-access trial in two patients with infantile TSD (IND 18225) with safety
Flotte TR, Cataltepe O, Puri A, Batista AR, Moser R, McKenna-Yasek D, Douthwright C, Gernoux G, Blackwood M, Mueller C, Tai PWL, Jiang X, Bateman S, Spanakis SG, Parzych J, Keeler AM, Abayazeed A, Rohatgi S, Gibson L, Finberg R, Barton BA, Vardar Z, Shazeeb MS, Gounis M, Tifft CJ, Eichler FS, Brown RH, Martin DR, Gray-Edwards HL, Sena-Esteves M.   +29 more
europepmc   +2 more sources

Efficient and precise generation of Tay-Sachs disease model in rabbit by prime editing system. [PDF]

Cell Discov, 2021
Dear Editor, Tay–Sachs disease (TSD) is a progressive neurodegenerative disorder due to an autosomal recessively inherited deficiency of β-hexosaminidase A (HexA). The four-bases (TATC) insertion in exon 11 of the HEXA (HEXA ins TATC) accounts for 80% of
Qian Y, Zhao D, Sui T, Chen M, Liu Z, Liu H, Zhang T, Chen S, Lai L, Li Z.   +9 more
europepmc   +2 more sources

Tay-Sachs disease [PDF]

Revista de la Facultad de Medicina, 2019
Introduction: Lysosomal storage disease is caused by the deficiency of a single hydrolase (lysosomal enzymes). GM2 gangliosidoses are autosomal recessive disorders caused by deficiency of β-hexosaminidase and Tay-Sachs disease (TSD) is one of its three ...
Carlos Andrés Gualdrón-Frías, Laura Tatiana Calderón-Nossa   +1 more
doaj   +5 more sources

Combined treatment of Ketogenic diet and propagermanium reduces neuroinflammation in Tay-Sachs disease mouse model. [PDF]

Metab Brain Dis
Tay-Sachs disease is a rare lysosomal storage disorder caused by β-Hexosaminidase A enzyme deficiency causing abnormal GM2 ganglioside accumulation in the central nervous system.
Inci OK, Seyrantepe V.
europepmc   +2 more sources

Diagnostic Tips from a Video Series and Literature Review of Patients with Late-Onset Tay-Sachs Disease. [PDF]

Tremor Other Hyperkinet Mov (N Y), 2022
Background: Late-Onset Tay-Sachs (LOTS) disease is a rare, progressive neurological condition that can dramatically affect the life of these patients. The diagnosis of LOTS is easily missed because of the multifaced presentation of these patients, who ...
Riboldi GM, Lau H.
europepmc   +2 more sources

Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease. [PDF]

PLoS ONE, 2011
To find a new biomarker of Tay-Sachs disease and Sandhoff disease. The lyso-GM2 ganglioside (lyso-GM2) levels in the brain and plasma in Sandhoff mice were measured by means of high performance liquid chromatography and the effect of a modified ...
Takashi Kodama, Tadayasu Togawa, Takahiro Tsukimura, Ikuo Kawashima, Kazuhiko Matsuoka, Keisuke Kitakaze, Daisuke Tsuji, Kohji Itoh, Yo-Ichi Ishida, Minoru Suzuki, Toshihiro Suzuki, Hitoshi Sakuraba   +11 more
doaj   +8 more sources

Investigating Immune Responses to the scAAV9-HEXM Gene Therapy Treatment in Tay-Sachs Disease and Sandhoff Disease Mouse Models. [PDF]

Int J Mol Sci, 2021
GM2 gangliosidosis disorders are a group of neurodegenerative diseases that result from a functional deficiency of the enzyme β-hexosaminidase A (HexA).
Kot S, Karumuthil-Melethil S, Woodley E, Zaric V, Thompson P, Chen Z, Lykken E, Keimel JG, Kaemmerer WF, Gray SJ, Walia JS.   +10 more
europepmc   +2 more sources

Tay-Sachs disease in a child of indigenous Guatemalan-Mayan origin with macular brown spots and perifoveal whitening [PDF]

American Journal of Ophthalmology Case Reports
Purpose: This report describes an unusual macular presentation of Tay-Sachs disease in a two-year-old female of Guatemalan-Mayan origin. This case serves to build upon the very limited literature regarding ophthalmic manifestations of Tay-Sachs disease ...
Mya Abousy, Lauren Hucko, Audina Berrocal, Erick Vinicio Saenz   +3 more
doaj   +2 more sources

Late-Onset Tay-Sachs Disease in an Irish Family. [PDF]

Mov Disord Clin Pract, 2021
Late‐onset Tay‐Sachs disease (LOTS) is an autosomal‐recessive lysosomal storage disease caused by deficient β‐hexosaminidase A activity. LOTS is rare in the Ashkenazi Jews, but even rarer in the non‐Jewish population.
Lefter S, O' Mahony O, Sweeney B, Ryan AM.   +3 more
europepmc   +2 more sources

Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease [PDF]

Cochrane Database of Systematic Reviews, 2015
Background: Globally, about five per cent of children are born with congenital or genetic disorders. The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, with higher carrier rates in
Abbot, Alhamdan, Alswaidi, Alwan, American College of Obstetricians and Gynecologists, Angastiniotis, Angastiniotis, Angastiniotis, Anido, Bach, Barbarin, Bekker, Bekker, Bell, Bonham, Borry, Boulton, Bregnballe, Callanan, Cao, Castellani, Castellani, Cheuvront, Childs, Childs, Christie, Clayton, Czeizel, Davies, Donner, Dormandy, Dyson, Fanos, Fisher, Fowzan, Gharaibeh, Glasscoe, Hegwer, Henneman, Henneman, Henneman, Heyes, Higgins, Honnor, Jones, Kaback, Kenen, Lakeman, Lapham, Lau, Lena-Russo, Lew, Lewis, Locock, Loukopoulos, Massie, Mennie, Mitchell, Modell, Modell, Modell, Modell, Palomaki, Payne, Peters, Petersen, Poppelaars, Qureshi, Ratip, Rose P. Humm, Rowley, Rowley, Samavat, Shapira, Smith, Tambor, Teeuw, Telfer, Ukoumunne, Watson, Watson, Watson, Weatherall, Whitten, Wilkie, Wille, Wilson, Yusuf, Zeesman, Zeuner   +89 more
core   +2 more sources