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Select item 107861711.

Terence R. Flotte, Oguz Cataltepe, Ajit Puri, Ana Rita Batista, Richard Moser, Diane McKenna-Yasek, Catherine Douthwright, Gwladys Gernoux, Meghan Blackwood, Christian Mueller, Phillip W. L. Tai, Xuntian Jiang, Scot Bateman, Spiro G. Spanakis, Julia Parzych, Allison M. Keeler, Aly Abayazeed, Saurabh Rohatgi, Laura Gibson, Robert Finberg, Bruce A. Barton, Zeynep Vardar, Mohammed Salman Shazeeb, Matthew Gounis, Cynthia J. Tifft, Florian S. Eichler, Robert H. Brown, Jr., Douglas R. Martin, Heather L. Gray-Edwards, Miguel Sena-Esteves

Nat Med. Author manuscript; available in PMC 2024 Jan 12.

Published in final edited form as: Nat Med. 2022 Feb; 28(2): 251–259. Published online 2022 Feb 10. doi: 10.1038/s41591-021-01664-4

PMCID:: PMC10786171

Article PDF–2.2M

Select item 107414792.

Lipid-Lowering Drug Gemfibrozil Protects Mice from Tay-Sachs Disease via Peroxisome Proliferator-Activated Receptor α

Sumita Raha, Debashis Dutta, Ramesh K. Paidi, Kalipada Pahan

Cells. 2023 Dec; 12(24): 2791. Published online 2023 Dec 8. doi: 10.3390/cells12242791

PMCID:: PMC10741479

Article PDF–11M

Select item 100197433.

Autophagic flux is impaired in the brain tissue of Tay-Sachs disease mouse model

Tugce Sengul, Melike Can, Nurselin Ateş, Volkan Seyrantepe

PLoS One. 2023; 18(3): e0280650. Published online 2023 Mar 16. doi: 10.1371/journal.pone.0280650

PMCID:: PMC10019743

Article PDF–2.6M

Select item 100099964.

Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum

Doaa M. A. Ibrahim, Ola S. M. Ali, Hala Nasr, Ekram Fateen, Alice AbdelAleem

Orphanet J Rare Dis. 2023; 18: 52. Published online 2023 Mar 13. doi: 10.1186/s13023-023-02637-1

PMCID:: PMC10009996

Article PDF–1.3M

Select item 98018385.

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

Giulietta Maria Riboldi, Heather Lau

Tremor Other Hyperkinet Mov (N Y) 2022; 12: 34. Published online 2022 Dec 27. doi: 10.5334/tohm.726

PMCID:: PMC9801838

Article PDF–1.5M

Select item 93932656.

Analysis of Brain Lipids in the Early-Onset Tay–Sachs Disease Mouse Model With the Combined Deficiency of β-Hexosaminidase A and Neuraminidase 3

Melike Can, Tugce Sengül, Secil Akyildiz Demir, Orhan K. İnci, Hande Basırlı, Volkan Seyrantepe

Front Mol Biosci. 2022; 9: 892248. Published online 2022 Aug 8. doi: 10.3389/fmolb.2022.892248

PMCID:: PMC9393265

Article PDF–4.4M

Select item 92943617.

Therapeutic Strategies For Tay-Sachs Disease

Jaqueline A. Picache, Wei Zheng, Catherine Z. Chen

Front Pharmacol. 2022; 13: 906647. Published online 2022 Jul 5. doi: 10.3389/fphar.2022.906647

PMCID:: PMC9294361

Article PDF–1.2M

Select item 91265928.

sp²-Iminosugars targeting human lysosomal β-hexosaminidase as pharmacological chaperone candidates for late-onset Tay-Sachs disease

Manuel González-Cuesta, Irene Herrera-González, M. Isabel García-Moreno, Roger A. Ashmus, David J. Vocadlo, José M. García Fernández, Eiji Nanba, Katsumi Higaki, Carmen Ortiz Mellet

J Enzyme Inhib Med Chem. 2022; 37(1): 1364–1374. Published online 2022 May 16. doi: 10.1080/14756366.2022.2073444

PMCID:: PMC9126592

Article PDF–1.9M

Select item 85394349.

Serum Cytokine Profile, Beta-Hexosaminidase A Enzymatic Activity and GM₂ Ganglioside Levels in the Plasma of a Tay-Sachs Disease Patient after Cord Blood Cell Transplantation and Curcumin Administration: A Case Report

Alisa A. Shaimardanova, Daria S. Chulpanova, Valeriya V. Solovyeva, Ekaterina E. Garanina, Ilnur I. Salafutdinov, Alexander Vladimirovich Laikov, Vadim V. Kursenko, Lisa Chakrabarti, Ekaterina Yu. Zakharova, Tatiana M. Bukina, Galina V. Baydakova, Albert Anatolyevich Rizvanov

Life (Basel) 2021 Oct; 11(10): 1007. Published online 2021 Sep 24. doi: 10.3390/life11101007

PMCID:: PMC8539434

Article PDF–1.5M

Select item 850498010.

Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay‐Sachs disease

Cochrane Database Syst Rev. 2021; 2021(10): CD010849. Published online 2021 Oct 11. doi: 10.1002/14651858.CD010849.pub4

PMCID:: PMC8504980

Article PDF–437K

Select item 822283711.

Novel HEXA variants in Korean children with Tay–Sachs disease with regression of neurodevelopment from infancy

Ji Hong Park, Jung Min Ko, Min Sun Kim, Man Jin Kim, Moon‐Woo Seong, Taekyeong Yoo, Byung Chan Lim, Jong‐Hee Chae

Mol Genet Genomic Med. 2021 Jun; 9(6): e1677. Published online 2021 Apr 3. doi: 10.1002/mgg3.1677

PMCID:: PMC8222837

Article PDF–778K

Select item 778094012.

Late‐Onset Tay‐Sachs Disease in an Irish Family

Stela Lefter, Olivia O' Mahony, Brian Sweeney, Aisling M. Ryan

Mov Disord Clin Pract. 2021 Jan; 8(1): 106–110. Published online 2020 Oct 28. doi: 10.1002/mdc3.13096

PMCID:: PMC7780940

Article PDF–2.2M

Select item 750102413.

Whole exome sequencing reveals a homozygous nonsense mutation in HEXA gene leading to Tay-Sachs disease in Saudi Family

Muhammad Imran Naseer, Angham Abdulrahman Abdulkareem, Mohammed Mohammed Jan, Adeel G. Chaudhary, Mohammad H. Al-Qahtani

Pak J Med Sci. 2020 Sep-Oct; 36(6): 1425–1428. doi: 10.12669/pjms.36.6.2579

PMCID:: PMC7501024

Article PDF–660K

Select item 733542814.

Patient-Derived Phenotypic High-Throughput Assay to Identify Small Molecules Restoring Lysosomal Function in Tay–Sachs Disease

Dennis J. Colussi, Marlene A. Jacobson

SLAS Discov. Author manuscript; available in PMC 2020 Jul 5.

Published in final edited form as: SLAS Discov. 2019 Mar; 24(3): 295–303. Published online 2019 Jan 7. doi: 10.1177/2472555218814538

PMCID:: PMC7335428

Article PDF–609K

Select item 674791615.

Unusual case of Juvenile Tay-Sachs disease

Huma A Cheema, Nadia Waheed, Anjum Saeed

BMJ Case Rep. 2019; 12(9): e230140. Published online 2019 Sep 12. doi: 10.1136/bcr-2019-230140

PMCID:: PMC6747916

Article PDF–139K

Select item 668786016.

Screening for Tay‐Sachs disease carriers by full‐exon sequencing with novel variant interpretation outperforms enzyme testing in a pan‐ethnic cohort

Alana C. Cecchi, Elizabeth S. Vengoechea, Kristjan E. Kaseniit, Melanie W. Hardy, Laura A. Kiger, Nikita Mehta, Imran S. Haque, Krista Moyer, Patricia Z. Page, Dale Muzzey, Karen A. Grinzaid

Mol Genet Genomic Med. 2019 Aug; 7(8): e836. Published online 2019 Jul 10. doi: 10.1002/mgg3.836