Altered retinal structure and function in Spinocerebellar ataxia type 3

Autor: Toulis V, Casaroli-Marano R, Camós-Carreras A, Figueras-Roca M, Sánchez-Dalmau B, Muñoz E, Ashraf NS, Ferreira AF, Khan N, Marfany G, do Carmo Costa M

Publikováno v: NEUROBIOLOGY OF DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant neurodegenerative disorder caused by expansion of a polyglutamine (polyQ)-encoding CAG repeat in the ATXN3 gene. Because the ATXN3 protein regulates photoreceptor ciliogenesis and phagocyt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::6e837ced7b2d5d763ed4cdc016e2a5b8
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21526

Deregulation of MMP-2 and MMP-9 in laryngeal cancer: A retrospective observational study.

Autor: Lin M; Department of Otolaryngology, Pingyang Hospital of Wenzhou Medical University, Wenzhou City, Zhejiang Province, China., Ashraf NS; Cancer Genetics and Epigenetics Research Group, Department of Biosciences, COMSATS University Islamabad, Pakistan., Mahjabeen I; Cancer Genetics and Epigenetics Research Group, Department of Biosciences, COMSATS University Islamabad, Pakistan.

Publikováno v: Medicine [Medicine (Baltimore)] 2024 Jul 05; Vol. 103 (27), pp. e38362.

Exploring homologous recombination repair and base excision repair pathway genes for possible diagnostic markers in hematologic malignancies.

Autor: Abbasi SF; Cancer Genetics and Epigenetics Research Group, Department of Biosciences, COMSATS University, Park Road, Islamabad, Pakistan., Mahjabeen I; Cancer Genetics and Epigenetics Research Group, Department of Biosciences, COMSATS University, Park Road, Islamabad, Pakistan. ishrat.mahjabeen@comsats.edu.pk., Parveen N; Cancer Genetics and Epigenetics Research Group, Department of Biosciences, COMSATS University, Park Road, Islamabad, Pakistan., Qamar I; Cancer Genetics and Epigenetics Research Group, Department of Biosciences, COMSATS University, Park Road, Islamabad, Pakistan., Haq MFU; Cancer Genetics and Epigenetics Research Group, Department of Biosciences, COMSATS University, Park Road, Islamabad, Pakistan., Shafique R; Cancer Genetics and Epigenetics Research Group, Department of Biosciences, COMSATS University, Park Road, Islamabad, Pakistan., Saeed N; Cancer Genetics and Epigenetics Research Group, Department of Biosciences, COMSATS University, Park Road, Islamabad, Pakistan., Ashraf NS; Cancer Genetics and Epigenetics Research Group, Department of Biosciences, COMSATS University, Park Road, Islamabad, Pakistan., Kayani MA; Cancer Genetics and Epigenetics Research Group, Department of Biosciences, COMSATS University, Park Road, Islamabad, Pakistan.

Publikováno v: Molecular genetics and genomics : MGG [Mol Genet Genomics] 2023 Nov; Vol. 298 (6), pp. 1527-1543. Date of Electronic Publication: 2023 Oct 20.

Blood levels of neurofilament light are associated with disease progression in a mouse model of spinocerebellar ataxia type 3.

Autor: Mengel D; Research Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen 72076,Germany.; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen 72076, Germany., Wellik IG; Department of Neurology, University of Michigan, Ann Arbor, MI 48109-2200, USA., Schuster KH; Department of Neurology, University of Michigan, Ann Arbor, MI 48109-2200, USA., Jarrah SI; Department of Neurology, University of Michigan, Ann Arbor, MI 48109-2200, USA., Wacker M; Research Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen 72076,Germany.; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen 72076, Germany., Ashraf NS; Department of Neurology, University of Michigan, Ann Arbor, MI 48109-2200, USA., Öz G; Center for Magnetic Resonance Research, Department of Radiology, Medical School, University of Minnesota, Minneapolis, MN 55455, USA., Synofzik M; Research Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen 72076,Germany.; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen 72076, Germany., Costa MDC; Department of Neurology, University of Michigan, Ann Arbor, MI 48109-2200, USA., McLoughlin HS; Department of Neurology, University of Michigan, Ann Arbor, MI 48109-2200, USA.

Publikováno v: Disease models & mechanisms [Dis Model Mech] 2023 Sep 01; Vol. 16 (9). Date of Electronic Publication: 2023 Sep 04.

Role of exosomal miRNA-19a / 19b and PTEN in brain tumor diagnosis.

Autor: Ashraf NS; Department of Biosciences, Cancer Genetics & Epigenetics Research Group, COMSATS University Islamabad, Pakistan., Mahjabeen I; Department of Biosciences, Cancer Genetics & Epigenetics Research Group, COMSATS University Islamabad, Pakistan., Hussain MZ; Department of Rheumatology, National University of Medical Sciences, Rawalpindi, Pakistan., Rizwan M; Department of Biosciences, Cancer Genetics & Epigenetics Research Group, COMSATS University Islamabad, Pakistan., Arshad M; Department of Biosciences, Cancer Genetics & Epigenetics Research Group, COMSATS University Islamabad, Pakistan., Mehmood A; Department of Biosciences, Cancer Genetics & Epigenetics Research Group, COMSATS University Islamabad, Pakistan., Haris MS; Department of Biosciences, Cancer Genetics & Epigenetics Research Group, COMSATS University Islamabad, Pakistan., Kayani MA; Department of Biosciences, Cancer Genetics & Epigenetics Research Group, COMSATS University Islamabad, Pakistan.

Publikováno v: Future oncology (London, England) [Future Oncol] 2023 Jul; Vol. 19 (22), pp. 1563-1576. Date of Electronic Publication: 2023 Aug 14.