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Academic Journal

Increased intrinsic membrane excitability is associated with olivary hypertrophy in spinocerebellar ataxia type 1.

  • Authors : Morrison LM; Neuroscience Graduate Program, University of Michigan, Ann Arbor, MI 48109, United States.; Peter O'Donnell Jr. Brain Institute, University of Texas Southwestern Medical Center, 6124 Harry Hines Blvd. Dallas, TX 75390, United States.

Subjects: Olivary Nucleus*/Olivary Nucleus*/Olivary Nucleus*/pathology ; Olivary Nucleus*/Olivary Nucleus*/Olivary Nucleus*/physiopathology ; Olivary Nucleus*/Olivary Nucleus*/Olivary Nucleus*/metabolism

  • Source: Human molecular genetics [Hum Mol Genet] 2024 Dec 06; Vol. 33 (24), pp. 2159-2176.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Expanded ATXN1 alters transcription and calcium signaling in SCA1 human motor neurons differentiated from induced pluripotent stem cells.

  • Authors : Sheeler C; Department of Neuroscience, University of Minnesota, Minneapolis, MN, United States of America; Genetics and Biochemistry Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD, United States of America.

Subjects: Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/metabolism ; Ataxin-1*/Ataxin-1*/Ataxin-1*/metabolism ; Ataxin-1*/Ataxin-1*/Ataxin-1*/genetics

  • Source: Neurobiology of disease [Neurobiol Dis] 2024 Oct 15; Vol. 201, pp. 106673. Date of Electronic Publication: 2024 Sep 20.Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Identification and Copy Number Variant Analysis of Enhancer Regions of Genes Causing Spinocerebellar Ataxia.

  • Authors : Ghorbani F; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.; de Boer EN

Subjects: DNA Copy Number Variations* ; Inositol 1,4,5-Trisphosphate Receptors*/Inositol 1,4,5-Trisphosphate Receptors*/Inositol 1,4,5-Trisphosphate Receptors*/genetics ; Enhancer Elements, Genetic*/Enhancer Elements, Genetic*/Enhancer Elements, Genetic*/genetics

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Oct 18; Vol. 25 (20). Date of Electronic Publication: 2024 Oct 18.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report.

  • Authors : Baille G; Delafontaine Hospital Center, Department of Neurology, Saint-Denis, F93200, France.; Geoffre N

Subjects: Ataxin-1*/Ataxin-1*/Ataxin-1*/genetics ; Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/genetics ; Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/diagnosis

  • Source: BMC neurology [BMC Neurol] 2024 Sep 17; Vol. 24 (1), pp. 348. Date of Electronic Publication: 2024 Sep 17.Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377

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Academic Journal

Evaluating the expression pattern of ATXN1 and CDC42EP1 genes and related long noncoding RNAs in oral squamous cell carcinoma.

  • Authors : Hajisadeghi S; Research Center for Prevention of Oral and Dental Diseases, Baqiyatallah University of Medical Sciences, Tehran, Iran.; School of Dentistry, Baqiyatallah University of Medical Sciences, Tehran, Iran.

Subjects: RNA, Long Noncoding*/RNA, Long Noncoding*/RNA, Long Noncoding*/genetics ; Mouth Neoplasms*/Mouth Neoplasms*/Mouth Neoplasms*/genetics ; Carcinoma, Squamous Cell*/Carcinoma, Squamous Cell*/Carcinoma, Squamous Cell*/genetics

  • Source: Molecular biology reports [Mol Biol Rep] 2024 Jul 13; Vol. 51 (1), pp. 796. Date of Electronic Publication: 2024 Jul 13.Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-4978

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Academic Journal

Clinical and genetic features of dominant Essential Tremor in Tuscany, Italy: FUS, CAMTA1, ATXN1 and beyond.

  • Authors : Orsucci D; Unit of Neurology, San Luca Hospital, Lucca, Italy. Electronic address: .; Tessa A

Subjects: RNA-Binding Protein FUS*/RNA-Binding Protein FUS*/RNA-Binding Protein FUS*/genetics ; Essential Tremor*/Essential Tremor*/Essential Tremor*/genetics ; Ataxin-1*/Ataxin-1*/Ataxin-1*/genetics

  • Source: Journal of the neurological sciences [J Neurol Sci] 2024 May 15; Vol. 460, pp. 123012. Date of Electronic Publication: 2024 Apr 13.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

PGT-M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases.

  • Authors : Soloveva EV; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia. .; Skleimova MM

Subjects: Preimplantation Diagnosis* ; Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/genetics ; Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/pathology

  • Source: Journal of assisted reproduction and genetics [J Assist Reprod Genet] 2024 May; Vol. 41 (5), pp. 1273-1283. Date of Electronic Publication: 2024 Apr 05.Publisher: Springer Country of Publication: Netherlands NLM ID: 9206495 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Mapping SCA1 regional vulnerabilities reveals neural and skeletal muscle contributions to disease.

  • Authors : Duvick L; Institute of Translational Neuroscience.; Department of Laboratory Medicine and Pathology, and.

Subjects: Ataxin-1*/Ataxin-1*/Ataxin-1*/genetics ; Ataxin-1*/Ataxin-1*/Ataxin-1*/metabolism ; Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/genetics

  • Source: JCI insight [JCI Insight] 2024 Mar 21; Vol. 9 (9). Date of Electronic Publication: 2024 Mar 21.Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium:

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Academic Journal

The capicua-ataxin-1-like complex regulates Notch-driven marginal zone B cell development and sepsis progression.

  • Authors : Park JS; Department of Life Sciences, Pohang University of Science and Technology (POSTECH), Pohang, Gyeongbuk, Republic of Korea.; Kang M

Subjects: Sepsis*/Sepsis*/Sepsis*/immunology ; Sepsis*/Sepsis*/Sepsis*/metabolism ; Sepsis*/Sepsis*/Sepsis*/genetics

  • Source: Nature communications [Nat Commun] 2024 Dec 04; Vol. 15 (1), pp. 10579. Date of Electronic Publication: 2024 Dec 04.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

PQBP3 prevents senescence by suppressing PSME3-mediated proteasomal Lamin B1 degradation.

  • Authors : Yoshioka Y; Department of Neuropathology, Medical Research Institute, Tokyo Medical and Dental University, 1-5-45, Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan.; Huang Y

Subjects: Cellular Senescence* ; Lamin Type B*/Lamin Type B*/Lamin Type B*/metabolism ; Lamin Type B*/Lamin Type B*/Lamin Type B*/genetics

  • Source: The EMBO journal [EMBO J] 2024 Sep; Vol. 43 (18), pp. 3968-3999. Date of Electronic Publication: 2024 Aug 05.Publisher: Wiley Blackwell Country of Publication: England NLM ID: 8208664 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  667 results for ""Ataxin-1""