학술논문
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'학술논문'
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Academic Journal
Tsourmas KI; Department of Neurobiology and Behavior; University of California, Irvine, CA, USA.; Institute for Memory Impairments and Neurological Disorders; University of California, Irvine, CA, USA.; Butler CA; Department of Neurobiology and Behavior; University of California, Irvine, CA, USA.; Institute for Memory Impairments and Neurological Disorders; University of California, Irvine, CA, USA.; Kwang NE; Department of Neurobiology and Behavior; University of California, Irvine, CA, USA.; Institute for Memory Impairments and Neurological Disorders; University of California, Irvine, CA, USA.; Sloane ZR; Department of Neurobiology and Behavior; University of California, Irvine, CA, USA.; Institute for Memory Impairments and Neurological Disorders; University of California, Irvine, CA, USA.; Dykman KJG; Department of Neurobiology and Behavior; University of California, Irvine, CA, USA.; Institute for Memory Impairments and Neurological Disorders; University of California, Irvine, CA, USA.; Maloof GO; Department of Neurobiology and Behavior; University of California, Irvine, CA, USA.; Institute for Memory Impairments and Neurological Disorders; University of California, Irvine, CA, USA.; Choudhury BP; GlycoAnalytics Core, Glycobiology Research and Training Center, School of Medicine, University of California, San Diego, CA, USA.; Paulchakrabarti M; GlycoAnalytics Core, Glycobiology Research and Training Center, School of Medicine, University of California, San Diego, CA, USA.; Prekopa CA; Department of Neurobiology and Behavior; University of California, Irvine, CA, USA.; Institute for Memory Impairments and Neurological Disorders; University of California, Irvine, CA, USA.; Tabaie EZ; Department of Neurobiology and Behavior; University of California, Irvine, CA, USA.; Institute for Memory Impairments and Neurological Disorders; University of California, Irvine, CA, USA.; Krattli RP; Department of Anatomy and Neurobiology; University of California, Irvine, CA, USA.; El-Khatib SM; Department of Anatomy and Neurobiology; University of California, Irvine, CA, USA.; Swarup V; Department of Neurobiology and Behavior; University of California, Irvine, CA, USA.; Institute for Memory Impairments and Neurological Disorders; University of California, Irvine, CA, USA.; Acharya MM; Department of Anatomy and Neurobiology; University of California, Irvine, CA, USA.; Department of Radiation Oncology; University of California, Irvine, CA, USA.; Hohsfield LA; Department of Neurobiology and Behavior; University of California, Irvine, CA, USA.; Institute for Memory Impairments and Neurological Disorders; University of California, Irvine, CA, USA.; Green KN; Department of Neurobiology and Behavior; University of California, Irvine, CA, USA. kngreen@uci.edu.; Institute for Memory Impairments and Neurological Disorders; University of California, Irvine, CA, USA. kngreen@uci.edu.
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD) (EMTISTD)
Report
Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases
Jarnes Utz JR, Kim S, King K, Ziegler R, Schema L, Redtree ES, Whitley CB. Infantile gangliosidoses: Mapping a timeline of clinical changes. Mol Genet Metab. 2017 Jun;121(2):170-179. doi: 10.1016/j.ymgme.2017.04.011. Epub 2017 Apr 29.
Villamizar-Schiller IT, Pabon LA, Hufnagel SB, Serrano NC, Karl G, Jefferies JL, Hopkin RJ, Prada CE. Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient withSandhoff disease. Eur J Med Genet. 2015 Mar;58(3):180-3. doi: 10.1016/j.ejmg.2014.12.009. Epub 2014 Dec 12.
Masciullo M, Santoro M, Modoni A, Ricci E, Guitton J, Tonali P, Silvestri G. Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis typeSandhoff : results of a 3-year follow-up. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S355-61. doi: 10.1007/s10545-010-9186-3. Epub 2010 Sep 4.
Shapiro BE, Pastores GM, Gianutsos J, Luzy C, Kolodny EH. Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment. Genet Med. 2009 Jun;11(6):425-33. doi: 10.1097/GIM.0b013e3181a1b5c5.
Wortmann SB, Lefeber DJ, Dekomien G, Willemsen MA, Wevers RA, Morava E. Substrate deprivation therapy in juvenileSandhoff disease. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S307-11. doi: 10.1007/s10545-009-1261-2. Epub 2009 Nov 4.
Tallaksen CM, Berg JE. Miglustat therapy in juvenileSandhoff disease. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S289-93. doi: 10.1007/s10545-009-1224-7. Epub 2009 Nov 4.
Bembi B, Marchetti F, Guerci VI, Ciana G, Addobbati R, Grasso D, Barone R, Cariati R, Fernandez-Guillen L, Butters T, Pittis MG. Substrate reduction therapy in the infantile form of Tay-Sachs disease. Neurology. 2006 Jan 24;66(2):278-80. doi: 10.1212/01.wnl.0000194225.78917.de.
Jacobs JF, Willemsen MA, Groot-Loonen JJ, Wevers RA, Hoogerbrugge PM. Allogeneic BMT followed by substrate reduction therapy in a child with subacute Tay-Sachs disease. Bone Marrow Transplant. 2005 Nov;36(10):925-6. doi: 10.1038/sj.bmt.1705155. No abstract available.
Jeyakumar M, Norflus F, Tifft CJ, Cortina-Borja M, Butters TD, Proia RL, Perry VH, Dwek RA, Platt FM. Enhanced survival inSandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation. Blood. 2001 Jan 1;97(1):327-9. doi: 10.1182/blood.v97.1.327.
Jarnes Utz JR, Kim S, King K, Ziegler R, Schema L, Redtree ES, Whitley CB. Infantile gangliosidoses: Mapping a timeline of clinical changes. Mol Genet Metab. 2017 Jun;121(2):170-179. doi: 10.1016/j.ymgme.2017.04.011. Epub 2017 Apr 29.
Villamizar-Schiller IT, Pabon LA, Hufnagel SB, Serrano NC, Karl G, Jefferies JL, Hopkin RJ, Prada CE. Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with
Masciullo M, Santoro M, Modoni A, Ricci E, Guitton J, Tonali P, Silvestri G. Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type
Shapiro BE, Pastores GM, Gianutsos J, Luzy C, Kolodny EH. Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment. Genet Med. 2009 Jun;11(6):425-33. doi: 10.1097/GIM.0b013e3181a1b5c5.
Wortmann SB, Lefeber DJ, Dekomien G, Willemsen MA, Wevers RA, Morava E. Substrate deprivation therapy in juvenile
Tallaksen CM, Berg JE. Miglustat therapy in juvenile
Bembi B, Marchetti F, Guerci VI, Ciana G, Addobbati R, Grasso D, Barone R, Cariati R, Fernandez-Guillen L, Butters T, Pittis MG. Substrate reduction therapy in the infantile form of Tay-Sachs disease. Neurology. 2006 Jan 24;66(2):278-80. doi: 10.1212/01.wnl.0000194225.78917.de.
Jacobs JF, Willemsen MA, Groot-Loonen JJ, Wevers RA, Hoogerbrugge PM. Allogeneic BMT followed by substrate reduction therapy in a child with subacute Tay-Sachs disease. Bone Marrow Transplant. 2005 Nov;36(10):925-6. doi: 10.1038/sj.bmt.1705155. No abstract available.
Jeyakumar M, Norflus F, Tifft CJ, Cortina-Borja M, Butters TD, Proia RL, Perry VH, Dwek RA, Platt FM. Enhanced survival in
Report
Long-Term Follow-Up of A Two-Stage Dose-Escalation Study to Evaluate the Safety and Efficacy of Bilateral Intraparenchymal Thalamic and Intracisternal/Intrathecal Admin of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease
Eichler F, Cataltepe OI, Daci R, Puri AS, Taghian T, Jiang X, Shazeeb MS, Kuhn A, Hader A, Celik H, Vardar Z, Lewis CJ, Artinian R, Nagy A, Vachha B, Thompson R, Gallagher T, Bateman S, Parzych J, Spanakis SG, Vaughn TA, Pier K, De Boever E, Abbott MA, D Ambrosio E, Kokoski D, Blackwood M, Drummond E, Ratai EM, Townsend EL, McLaughlin H, Tifft CJ, Keeler AM, Sena-Esteves M, Gray-Edwards HL, Flotte TR. Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial. Nat Med. 2025 Sep;31(9):2927-2935. doi: 10.1038/s41591-025-03822-4. Epub 2025 Aug 15.
Eichler F, Cataltepe OI, Daci R, Puri AS, Taghian T, Jiang X, Shazeeb MS, Kuhn A, Hader A, Celik H, Vardar Z, Lewis CJ, Artinian R, Nagy A, Vachha B, Thompson R, Gallagher T, Bateman S, Parzych J, Spanakis SG, Vaughn TA, Pier K, De Boever E, Abbott MA, D Ambrosio E, Kokoski D, Blackwood M, Drummond E, Ratai EM, Townsend EL, McLaughlin H, Tifft CJ, Keeler AM, Sena-Esteves M, Gray-Edwards HL, Flotte TR. Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial. Nat Med. 2025 Sep;31(9):2927-2935. doi: 10.1038/s41591-025-03822-4. Epub 2025 Aug 15.
Report
A Two-Stage, Dose-Escalation and Safety & Efficacy Study of Bilateral Intraparenchymal Thalamic and Intracisternal/Intrathecal Administration of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease
Eichler F, Cataltepe OI, Daci R, Puri AS, Taghian T, Jiang X, Shazeeb MS, Kuhn A, Hader A, Celik H, Vardar Z, Lewis CJ, Artinian R, Nagy A, Vachha B, Thompson R, Gallagher T, Bateman S, Parzych J, Spanakis SG, Vaughn TA, Pier K, De Boever E, Abbott MA, D Ambrosio E, Kokoski D, Blackwood M, Drummond E, Ratai EM, Townsend EL, McLaughlin H, Tifft CJ, Keeler AM, Sena-Esteves M, Gray-Edwards HL, Flotte TR. Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial. Nat Med. 2025 Sep;31(9):2927-2935. doi: 10.1038/s41591-025-03822-4. Epub 2025 Aug 15.
De BP, Rosenberg JB, Selvan N, Wilson I, Yusufzai N, Greco A, Kaminsky SM, Heier LA, Ricart Arbona RJ, Miranda IC, Monette S, Nair A, Khanna R, Crystal RG, Sondhi D. Assessment of Safety and Biodistribution of AAVrh.10hCLN2 Following Intracisternal Administration in Nonhuman Primates for the Treatment of CLN2 Batten Disease. Hum Gene Ther. 2023 Sep;34(17-18):905-916. doi: 10.1089/hum.2023.067.
Eichler F, Cataltepe OI, Daci R, Puri AS, Taghian T, Jiang X, Shazeeb MS, Kuhn A, Hader A, Celik H, Vardar Z, Lewis CJ, Artinian R, Nagy A, Vachha B, Thompson R, Gallagher T, Bateman S, Parzych J, Spanakis SG, Vaughn TA, Pier K, De Boever E, Abbott MA, D Ambrosio E, Kokoski D, Blackwood M, Drummond E, Ratai EM, Townsend EL, McLaughlin H, Tifft CJ, Keeler AM, Sena-Esteves M, Gray-Edwards HL, Flotte TR. Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial. Nat Med. 2025 Sep;31(9):2927-2935. doi: 10.1038/s41591-025-03822-4. Epub 2025 Aug 15.
De BP, Rosenberg JB, Selvan N, Wilson I, Yusufzai N, Greco A, Kaminsky SM, Heier LA, Ricart Arbona RJ, Miranda IC, Monette S, Nair A, Khanna R, Crystal RG, Sondhi D. Assessment of Safety and Biodistribution of AAVrh.10hCLN2 Following Intracisternal Administration in Nonhuman Primates for the Treatment of CLN2 Batten Disease. Hum Gene Ther. 2023 Sep;34(17-18):905-916. doi: 10.1089/hum.2023.067.
Academic Journal
Salamon A; Department of Neurology, University of Szeged, Szeged, Hungary.; Szpisjak L; Department of Neurology, University of Szeged, Szeged, Hungary.; Zádori D; Department of Neurology, University of Szeged, Szeged, Hungary.; Lénárt I; Department of Pediatrics and Pediatric Health Center, University of Szeged, Szeged, Hungary.; Maróti Z; Genetic Diagnostic Laboratory, Department of Pediatrics and Pediatric Health Center, University of Szeged, Szeged, Hungary.; Kalmár T; Genetic Diagnostic Laboratory, Department of Pediatrics and Pediatric Health Center, University of Szeged, Szeged, Hungary.; Brierley CMH; Department of Neurology, Addenbrooke's Hospital, Cambridge, United Kingdom.; Deegan PB; Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, United Kingdom.; Klivényi P; Department of Neurology, University of Szeged, Szeged, Hungary.
Publisher: Literatura Medica Country of Publication: Hungary NLM ID: 17510500R Publication Model: Print Cited Medium: Print ISSN: 0019-1442 (Print) Linking ISSN: 00191442 NLM ISO Abbreviation: Ideggyogy Sz Subsets: MEDLINE
Academic Journal
Lewis CJ; Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, USA.; Chipman SI; Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, USA.; Johnston JM; Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, USA.; Acosta MT; Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, USA.; Toro C; Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, USA.; Tifft CJ; Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, USA. cynthiat@mail.nih.gov.
Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE
Academic Journal
Johnson AK; Department of Clinical Sciences, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; McCurdy VJ; Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; Department of Anatomy, Physiology & Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; Gray-Edwards HL; Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; Maguire AS; Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; Department of Anatomy, Physiology & Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; Cochran JN; Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; Gross AL; Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; Department of Anatomy, Physiology & Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; Skinner HE; Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; Randle AN; Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; Shirley JL; Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; Brunson BL; Department of Anatomy, Physiology & Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; Bradbury AM; Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; Department of Anatomy, Physiology & Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; Leroy SG; Department of Neurology and Gene Therapy Center, University of Massachusetts Medical School, Worcester, Massachusetts, USA.; Hwang M; Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; Rockwell HE; Biology Department, Boston College, Chestnut Hill, Massachusetts, USA.; Cox NR; Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; Department of Pathobiology, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; Baker HJ; Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; Department of Pathobiology, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; Seyfried TN; Biology Department, Boston College, Chestnut Hill, Massachusetts, USA.; Sena-Esteves M; Department of Neurology and Gene Therapy Center, University of Massachusetts Medical School, Worcester, Massachusetts, USA.; Martin DR; Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.; Department of Anatomy, Physiology & Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, Alabama, USA.
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE
Academic Journal
Yin JH; Beijing Tiantan Hospital, China National Clinical Research Center for Neurological Diseases, Capital Medical University, Beijing, 100070, PR China.; Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100070, PR China.; Hu WZ; Beijing Tiantan Hospital, China National Clinical Research Center for Neurological Diseases, Capital Medical University, Beijing, 100070, PR China.; Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100070, PR China.; Huang Y; Beijing Tiantan Hospital, China National Clinical Research Center for Neurological Diseases, Capital Medical University, Beijing, 100070, PR China. yue.huang@ncrcnd.org.cn.; Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100070, PR China. yue.huang@ncrcnd.org.cn.; Pharmacology Department, School of Biomedical Sciences, Faculty of Medicine and Health, UNSW Sydney, Sydney, 2032, Australia. yue.huang@ncrcnd.org.cn.
Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE
Academic Journal
Platt N; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK.; Shepherd D; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK.; Smith DA; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK.; Smith C; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK.; Wallom KL; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK.; Luqmani R; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Windmill Road, Oxford OX3 7LD, UK.; Churchill GC; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK.; Galione A; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK.; Platt FM; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK.
Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE
Academic Journal
Int J Clin Pediatr Dent
Academic Journal
Rahmani Z; Department of Medical Genetics, Golestan University of Medical Sciences, Gorgan, Iran.; Banisadr A; Department of Medical Biotechnology and Nanotechnology, Mashhad University of Medical Sciences, Mashhad, Iran.; Ghodsinezhad V; Molecular Medicine Department, Faculty of Medicine, Zanjan University of Medical Sciences, Zanjan, Iran. vadieh95@gmail.com.; Dibaj M; Department of Biological Sciences, School of Natural Sciences, University of Tabriz, Tabriz, Iran.; Aryani O; Neuroscience Department, Iran University of Medical sciences, Tehran, Iran.
Publisher: Springer Country of Publication: United States NLM ID: 8610370 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7365 (Electronic) Linking ISSN: 08857490 NLM ISO Abbreviation: Metab Brain Dis Subsets: MEDLINE
Academic Journal
Singh K; Department of Pediatrics, Queen's University, Kingston, ON K7L 3N6, Canada.; Quinville BM; Centre for Neuroscience Studies, Queen's University, Kingston, ON K7L 3N6, Canada.; Mitchell M; Department of Pediatrics, Queen's University, Kingston, ON K7L 3N6, Canada.; Chen Z; Department of Pediatrics, Queen's University, Kingston, ON K7L 3N6, Canada.; Walia JS; Department of Pediatrics, Queen's University, Kingston, ON K7L 3N6, Canada.; Centre for Neuroscience Studies, Queen's University, Kingston, ON K7L 3N6, Canada.
Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
Academic Journal
Herbst ZM; GelbChem, LLC, Seattle, WA 98195, USA; Department of Chemistry, University of Washington, Seattle, WA 98195, USA.; Hold S; ARCHIMED Life Science GmbH, Leberstraße 20, 1110 Vienna, Austria.; Gelb MH; GelbChem, LLC, Seattle, WA 98195, USA; Department of Chemistry, University of Washington, Seattle, WA 98195, USA; Department of Biochemistry, University of Washington, Seattle, WA 98195, USA.; Khaledi H; GelbChem, LLC, Seattle, WA 98195, USA. Electronic address: hamid@gelbchem.com.
Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
Academic Journal
Acta Epileptologica. 6(1)
Report
Effects of N-Acetyl-L-Leucine on GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease): A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study
Martakis K, Claassen J, Gascon-Bayari J, Goldschagg N, Hahn A, Hassan A, Hennig A, Jones S, Kay R, Lau H, Perlman S, Sharma R, Schneider S, Bremova-Ertl T. Efficacy and Safety of N-Acetyl-l-Leucine in Children and Adults With GM2 Gangliosidoses. Neurology. 2023 Mar 7;100(10):e1072-e1083. doi: 10.1212/WNL.0000000000201660. Epub 2022 Dec 1.
Churchill GC, Strupp M, Factor C, Bremova-Ertl T, Factor M, Patterson MC, Platt FM, Galione A. Acetylation turns leucine into a drug by membrane transporter switching. Sci Rep. 2021 Aug 4;11(1):15812. doi: 10.1038/s41598-021-95255-5.
Fields T, Patterson M, Bremova-Ertl T, Belcher G, Billington I, Churchill GC, Davis W, Evans W, Flint S, Galione A, Granzer U, Greenfield J, Karl R, Kay R, Lewi D, Mathieson T, Meyer T, Pangonis D, Platt FM, Tsang L, Verburg C, Factor M, Strupp M. A master protocol to investigate a novel therapy acetyl-L-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia. Trials. 2021 Jan 22;22(1):84. doi: 10.1186/s13063-020-05009-3.
Martakis K, Claassen J, Gascon-Bayari J, Goldschagg N, Hahn A, Hassan A, Hennig A, Jones S, Kay R, Lau H, Perlman S, Sharma R, Schneider S, Bremova-Ertl T. Efficacy and Safety of N-Acetyl-l-Leucine in Children and Adults With GM2 Gangliosidoses. Neurology. 2023 Mar 7;100(10):e1072-e1083. doi: 10.1212/WNL.0000000000201660. Epub 2022 Dec 1.
Churchill GC, Strupp M, Factor C, Bremova-Ertl T, Factor M, Patterson MC, Platt FM, Galione A. Acetylation turns leucine into a drug by membrane transporter switching. Sci Rep. 2021 Aug 4;11(1):15812. doi: 10.1038/s41598-021-95255-5.
Fields T, Patterson M, Bremova-Ertl T, Belcher G, Billington I, Churchill GC, Davis W, Evans W, Flint S, Galione A, Granzer U, Greenfield J, Karl R, Kay R, Lewi D, Mathieson T, Meyer T, Pangonis D, Platt FM, Tsang L, Verburg C, Factor M, Strupp M. A master protocol to investigate a novel therapy acetyl-L-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia. Trials. 2021 Jan 22;22(1):84. doi: 10.1186/s13063-020-05009-3.
Academic Journal
García Morales L; Neurology Service, Institute of Neurology and Neurosurgery, Havana, Cuba.; Mustelier Bécquer RG; Neurology Service, Institute of Neurology and Neurosurgery, Havana, Cuba.; Pérez Joglar L; Neurology Service, Institute of Neurology and Neurosurgery, Havana, Cuba.; Zaldívar Vaillant T; Genetic Department, Institute of Neurology and Neurosurgery, Havana, Cuba.
Publisher: Taylor & Francis Country of Publication: England NLM ID: 101587185 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2167-9223 (Electronic) Linking ISSN: 21678421 NLM ISO Abbreviation: Amyotroph Lateral Scler Frontotemporal Degener Subsets: MEDLINE
Academic Journal
Ryckman, Alex E. ; Deschenes, Natalie M. ; Quinville, Brianna M. ; Osmon, Karlaina J.L. ; Mitchell, Melissa ; Chen, Zhilin ; Gray, Steven J. ; Walia, Jagdeep S.
In Molecular Therapy - Methods & Clinical Development 14 March 2024 32(1)
Academic Journal
Rio Hermantara; Clara Ayu Widjojo; Felicia Lael Belva; Beatrice Miranda Japri; Abigail Yoel; Richelle Bertly Josefano
Indonesian Journal of Life Sciences. :69-89
Academic Journal
Tifft CJ; National Institutes of Health, Bethesda, MD.; Batsu I; Sanofi, Cambridge, MA.; Giugliani R; Federal University of Rio Grande do Sul (UFRGS), Hospital De Clinicas De Porto Alegre (HCPA), INAGEMP, DASA, and Casa dos Raros, Porto Alegre, Brazil.; Goyeau H; Sanofi, Gentilly, France.; Hahn A; Department of Pediatric Neurology, Justus-Liebig-University, Gießen, Germany.; Jones SA; St Mary's Hospital, Manchester, United Kingdom.; Minini P; Sanofi, Gentilly, France.; Nakashima I; Tohoku Medical and Pharmaceutical University, Sendai, Miyagi, Japan.; O'Callaghan M; Neurometabolic Unit, Neurology Department, Hospital Sant Joan de Déu, and Unitat de Recerca Clínica, Fundació Sant Joan de Déu and European Reference Network for Hereditary Metabolic Diseases (MetabERN), Barcelona, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Perlman S; Ataxia Center and HD Center of Excellence, Los Angeles, CA.; Thibault N; Sanofi, Cambridge, MA.; Kowthalam MU; Sanofi, Bridgewater, NJ.; Zheng R; Sanofi, Cambridge, MA.; Cox TM; University of Cambridge and Addenbrooke's Hospital, Cambridge, United Kingdom. Electronic address: tmc12@medschl.cam.ac.uk.
Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Academic Journal
Minamisawa M; Faculty of Advanced Engineering, Chiba Institute of Technology, 2-1-1 Shibazono Narashino, Chiba 275-0023, Japan.; Graduate School of Engineering, Chiba Institute of Technology, 2-17-1 Tsudanuma Narashino, Chiba 275-0016, Japan.; Suzumura T; Graduate School of Engineering, Chiba Institute of Technology, 2-17-1 Tsudanuma Narashino, Chiba 275-0016, Japan.; Bose S; Amity Institute of Biotechnology and Molecular Medicine, Amity University, Uttar Pradesh, Noida 201313, India.; Taniai T; Faculty of Advanced Engineering, Chiba Institute of Technology, 2-1-1 Shibazono Narashino, Chiba 275-0023, Japan.; Kawai G; Faculty of Advanced Engineering, Chiba Institute of Technology, 2-1-1 Shibazono Narashino, Chiba 275-0023, Japan.; Graduate School of Engineering, Chiba Institute of Technology, 2-17-1 Tsudanuma Narashino, Chiba 275-0016, Japan.; Suzuki K; School of Medicine, Yokohama City University, 3-9 Fukuura Kanazawa Kanagawa, Yokohama 236-0004, Japan.; Yamaguchi A; Department of Pathology, Yokohama City University, Yokohama 236-0004, Japan.; Yamanaka S; Department of Pathology, Yokohama City University, Yokohama 236-0004, Japan.
Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101629322 Publication Model: Electronic Cited Medium: Internet ISSN: 2076-3271 (Electronic) Linking ISSN: 20763271 NLM ISO Abbreviation: Med Sci (Basel)
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