Zobrazeno 1 - 5
of 5
pro vyhledávání: '"SD, Sandhoff disease"'
Autor:
Hitoshi Sakuraba, Youichi Tajima, Chikako Tasaki, Keisuke Kitakaze, Daisuke Tsuji, Takatsugu Hirokawa, Kohji Itoh
Publikováno v:
Biochemistry and Biophysics Reports
GM2 gangliosidoses are autosomal recessive lysosomal storage diseases (LSDs) caused by mutations in the HEXA, HEXB and GM2A genes, which encode the human lysosomal β-hexosaminidase (Hex) α- and β-subunits, and GM2 activator protein (GM2A), respect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95bd1c68f671c3365d83d2113ee44d6e
Autor:
Sheela Nampoothiri, Shekhar Patil, Mehul Mistri, Jayesh Sheth, Chaitanya Datar, Frenny Sheth, Harshuti Shah, Sarita Gupta, Mahesh Kamate, Umesh Kalane
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 425-430 (2014)
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 425-430 (2014)
Tay–Sachs disease is an autosomal recessive neurodegenerative disorder occurring due to impaired activity of β-hexosaminidase-A (EC 3.2.1.52), resulting from the mutation in HEXA gene. Very little is known about the molecular pathology of TSD in I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fff2432d568f12d2364e5a8656f5cd1
https://doi.org/10.1016/j.ymgmr.2014.09.004
https://doi.org/10.1016/j.ymgmr.2014.09.004
Akademický článek
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Autor:
Kitakaze K; Department of Medicinal Biotechnology, Institute of Biomedical Sciences, Graduate School of Pharmaceutical Science, Tokushima University, 1-78-1, Tokushima 770-8505, Japan., Tasaki C; Department of Medicinal Biotechnology, Institute of Biomedical Sciences, Graduate School of Pharmaceutical Science, Tokushima University, 1-78-1, Tokushima 770-8505, Japan., Tajima Y; Molecular Medical Research Project, Department of Genome Medicine, Tokyo Metropolitan Institute of Medical Science, 2-1-6 Kamikitazawa, Setagaya-ku, Tokyo 156-8506, Japan., Hirokawa T; Molecular Profiling Research Center for Drug Discovery (molprof), National Institute of Advanced Industrial Science and Technology (AIST), Tokyo 135-0064, Japan., Tsuji D; Department of Medicinal Biotechnology, Institute of Biomedical Sciences, Graduate School of Pharmaceutical Science, Tokushima University, 1-78-1, Tokushima 770-8505, Japan., Sakuraba H; Department of Clinical Genetics, Meiji Pharmaceutical University, Tokyo 204-8588, Japan., Itoh K; Department of Medicinal Biotechnology, Institute of Biomedical Sciences, Graduate School of Pharmaceutical Science, Tokushima University, 1-78-1, Tokushima 770-8505, Japan.
Publikováno v:
Biochemistry and biophysics reports [Biochem Biophys Rep] 2016 Jun 08; Vol. 7, pp. 157-163. Date of Electronic Publication: 2016 Jun 08 (Print Publication: 2016).
Autor:
Sheth J; Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, India., Mistri M; Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, India., Datar C; Department of Genetics, Clinical Geneticist, Sahyadri Medical Genetics and Tissue Engineering Facility (SMGTEF), Pune, India., Kalane U; Department of Genetics, Clinical Geneticist, Sahyadri Medical Genetics and Tissue Engineering Facility (SMGTEF), Pune, India., Patil S; Department of Pediatric Neurology, Hiranandani Hospital, Mumbai, Maharashtra, India., Kamate M; Department of Pediatric Neurology, KLES Prabhakar Kore Hospital, Belgaum, Karnataka, India., Shah H; Rajvee Child Neuro Hospital, Memnagar, Ahmedabad, India., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Science & Research Centre, AIMS Ponekkara PO, Cochin, Kerala, India., Gupta S; Department of Biochemistry, Faculty of Science, M.S. University of Baroda, Vadodara, Gujarat, India., Sheth F; Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, India.
Publikováno v:
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2014 Sep 29; Vol. 1, pp. 425-430. Date of Electronic Publication: 2014 Sep 29 (Print Publication: 2014).