ArticleActa neuropathologica2023
Defective cerebellar ryanodine receptor type 1 and endoplasmic reticulum calcium 'leak' in tremor pathophysiology.
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Article in Acta neuropathologica, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11citing papers in PubMed
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11 citing papers in PubMed, 16 citations in OpenAlex.
- Tremor pathophysiology.Clinical parkinsonism & related disorders · 2026Review
- Dysferlin and the Regulation of CaCells · 2025Review
- Current and Emerging Therapeutic Targets for Essential Tremor: A Critical Appraisal of Recent Preclinical and Clinical Studies.Movement disorders clinical practice · 2025Review
- Pathophysiological Role of Primary Motor Cortex in Essential Tremor.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Axonal pathology differentially affects human Purkinje cell subpopulations in the essential tremor cerebellum.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Identification of Potential Intervention Targets Involved in Prior Exercise that Attenuates Peripheral Neuropathic Pain by Integrating Transcriptome and Whole-genome Bisulfite Sequencing Analyses.Molecular neurobiology · 2025Article
- Targeting the fundamentals for tremors: the frequency and amplitude coding in essential tremor.Journal of biomedical science · 2025Review
- Axonal pathology differentially affects human Purkinje cell subtypes in the essential tremor cerebellum.bioRxiv : the preprint server for biology · 2025Article
- Postmortem Fatty Acid Abnormalities in the Cerebellum of Patients with Essential Tremor.Cerebellum (London, England) · 2024Article
- Decreased Synaptic Vesicle Glycoprotein 2A Binding in the Human Postmortem Essential Tremor Cerebellum: Evidence of Reduction in Synaptic Density.Cerebellum (London, England) · 2024Article
- "RYR1 and the cerebellum": scientific commentary on "Defective Cerebellar Ryanodine Receptor Type 1 and Endoplasmic Reticulum Calcium 'Leak' in Tremor Pathophysiology".Acta neuropathologica · 2024Article
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Authors and funding
12 authors at 4 institutions in 2 countries.
Regina T Martuscello *Department of Pathology and Cell Biology, Columbia University Medical Center Vagelos College of Physicians and Surgeons and the New York Presbyterian Hospital, 630 W 168th Street, PH Stem 15-124, New York, NY, 10032, USA.
Meng-Ling Chen *Department of Neurology, Columbia University Vagelos College of Physicians and Surgeons, 650 W 168th Street, BB305, New York, NY, USA.
Steven ReikenDepartment of Physiology and Cellular Biophysics, Columbia University Vagelos College of Physicians and Surgeons, 1150 St Nicholas Ave, New York, NY, USA.
Leah R SittenfeldDepartment of Physiology and Cellular Biophysics, Columbia University Vagelos College of Physicians and Surgeons, 1150 St Nicholas Ave, New York, NY, USA.
David S RuffDepartment of Neurology, Columbia University Vagelos College of Physicians and Surgeons, 650 W 168th Street, BB305, New York, NY, USA.
Chun-Lun NiDepartment of Neurology, Columbia University Vagelos College of Physicians and Surgeons, 650 W 168th Street, BB305, New York, NY, USA.
Chih-Chun LinDepartment of Neurology, Columbia University Vagelos College of Physicians and Surgeons, 650 W 168th Street, BB305, New York, NY, USA.
Ming-Kai PanInitiative for Columbia Ataxia and Tremor, Columbia University, New York, NY, USA.
Elan D LouisDepartment of Neurology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, USA.
Andrew R MarksDepartment of Physiology and Cellular Biophysics, Columbia University Vagelos College of Physicians and Surgeons, 1150 St Nicholas Ave, New York, NY, USA.
Sheng-Han KuoDepartment of Neurology, Columbia University Vagelos College of Physicians and Surgeons, 650 W 168th Street, BB305, New York, NY, USA.
Phyllis L FaustDepartment of Pathology and Cell Biology, Columbia University Medical Center Vagelos College of Physicians and Surgeons and the New York Presbyterian Hospital, 630 W 168th Street, PH Stem 15-124, New York, NY, 10032, USA. plf3@cumc.columbia.edu.ORCID 0000-0001-6533-7921
Columbia University · USNewYork–Presbyterian Hospital · USNational Taiwan University Hospital · TWThe University of Texas Southwestern Medical Center · US
Funding
Clinical Pathological Study of Cognitive Impairment in Essential TremorR01NS086736 · NINDS · YALE UNIVERSITY · PI COSENTINO, STEPHANIE ANN, LOUIS, ELAN D · 2014 to 2023
$8.1MExploring the Molecular Physiology of Atrial FibrillationR01HL140934 · NHLBI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MARKS, ANDREW ROBERT, MARX, STEVEN O · 2018 to 2025
$6.0MTraining in Cardiovascular Translational ResearchT32HL120826 · NHLBI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MARKS, ANDREW ROBERT, TABAS, IRA A · 2014 to 2023
$4.7MDeep Dive: Mapping the Neuropathology of Essential Tremor and Exploring the Molecular Underpinnings of NeurodegenerationR01NS117745 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI FAUST, PHYLLIS L, LOUIS, ELAN D · 2021 to 2025
$4.7MPATHOLOG-OMICS - ESSENTIAL TREMOR IN THE BROADER CONTEXT OF NEURODEGENERATIONR01NS088257 · NINDS · YALE UNIVERSITY · PI FAUST, PHYLLIS L, LOUIS, ELAN D · 2015 to 2019
$3.3MStructure-function analysis for elucidating pathogenicity of cardiac ryanodine receptor genetic variantsR01HL145473 · NHLBI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MARKS, ANDREW ROBERT, SHEPARD, KENNETH L · 2019 to 2022
$3.1MTargeting Cerebellar Endoplasmic Reticulum Calcium Handling in Essential TremorR01NS124854 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI PHYLLIS L FAUST, Sheng-Han Kuo · 2022 to 2026
$2.9MCalcium and the Pathophysiology of Neurodegenerative DisordersRF1NS114570 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MARKS, ANDREW ROBERT · 2020 to 2020
$2.3MTargeting Cerebellar Excitatory Synapses for Tremor ProgressionR01NS118179 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI KUO, SHENG-HAN · 2020 to 2024
$2.2MCerebellar Circuitry in the Pathophysiology of TremorR01NS104423 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI KUO, SHENG-HAN · 2018 to 2022
$2.0MRyanodine Receptor Defects in Cardiomyopathy Caused by Lamin A/C Gene MutationsR01HL142903 · NHLBI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MARKS, ANDREW ROBERT, WORMAN, HOWARD J · 2019 to 2022
$1.8MCalcium and the physiology of diabetesR01DK118240 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MARKS, ANDREW ROBERT · 2019 to 2022
$1.6MNHLBI NIH HHS R01 HL140934NHLBI NIH HHS R01HL140934NHLBI NIH HHS R01 HL142903NHLBI NIH HHS R01 HL145473NHLBI NIH HHS R25 HL156002NHLBI NIH HHS T32 HL120826NIDDK NIH HHS R01 DK118240NINDS NIH HHS 1RF1 NS114570NINDS NIH HHS R01 086736NINDS NIH HHS R01 NS086736NINDS NIH HHS R01 NS088257NINDS NIH HHS R01 NS104423NINDS NIH HHS R01 NS117745NINDS NIH HHS R01 NS118179NINDS NIH HHS R01 NS124854NINDS NIH HHS RF1 NS114570
Abstract
Essential Tremor (ET) is a prevalent neurological disease characterized by an 8-10 Hz action tremor. Molecular mechanisms of ET remain poorly understood. Clinical data suggest the importance of the cerebellum in disease pathophysiology, and pathological studies indicate Purkinje Cells (PCs) incur damage. Our recent cerebellar cortex and PC-specific transcriptome studies identified alterations in calcium (Ca
Indexed as
CalciumRyanodine Receptor Calcium Release ChannelCerebellumEndoplasmic ReticulumHumansMuscle, SkeletalTremorCalciumRyanodine Receptor Calcium Release ChannelCalciumCellular stressCerebellumEssential tremorMouse modelRyR1
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