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Biology and Biochemistry

D-Index
88
Citations
25035
World Ranking
2730
National Ranking
1413

Overview

Charles A. Thornton is affiliated with the University of Rochester Medical Center in the United States. Their research primarily spans the fields of Biochemistry, Genetics and Molecular Biology, Neuroscience, and Medicine, with focused subfields including Molecular Biology, Cellular and Molecular Neuroscience, Neurology, Cardiology and Cardiovascular Medicine, and Physiology.

Their work targets several key topics, notably:

  • Genetic Neurodegenerative Diseases
  • Mitochondrial Function and Pathology
  • Muscle Physiology and Disorders
  • Parkinson's Disease Mechanisms and Treatments
  • RNA Research and Splicing
  • Cardiomyopathy and Myosin Studies
  • Ion channel regulation and function

They have contributed extensively to scientific literature, including recent publications such as:

  • "Transcriptome alterations in myotonic dystrophy frontal cortex," 2021, Cell Reports
  • "Mexiletine in Myotonic Dystrophy Type 1," 2020, Neurology
  • "Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial," 2023, The Lancet Neurology
  • "A Small Molecule that Binds an RNA Repeat Expansion Stimulates Its Decay via the Exosome Complex," 2020, Cell chemical biology
  • "Targeted splice sequencing reveals RNA toxicity and therapeutic response in myotonic dystrophy," 2021, Nucleic Acids Research

The primary venues where they frequently publish include:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Neurology
  • Journal of Clinical Investigation
  • Muscle & Nerve
  • PLoS ONE

Frequent co-authors collaborating with Charles A. Thornton are:

  • Johanna Hamel
  • Jeanne Dekdebrun
  • John Day
  • Jeffrey Statland
  • Jacinda B. Sampson

Best Publications

  • Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy.

    Jill W. Miller;Carl R. Urbinati;Patana Teng-umnuay;Myrna G. Stenberg

  • A muscleblind knockout model for myotonic dystrophy.

    Rahul N. Kanadia;Karen A. Johnstone;Ami Mankodi;Codrin Lungu

  • Expanded CUG Repeats Trigger Aberrant Splicing of ClC-1 Chloride Channel Pre-mRNA and Hyperexcitability of Skeletal Muscle in Myotonic Dystrophy

    Ami Mankodi;Masanori P. Takahashi;Hong Jiang;Carol L. Beck

  • Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons

    Hong Jiang;Ami Mankodi;Maurice S. Swanson;Richard T. Moxley

  • Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy

    Xiaoyan Lin;Jill W. Miller;Ami Mankodi;Rahul N. Kanadia

  • Targeting nuclear RNA for in vivo correction of myotonic dystrophy

    Thurman M. Wheeler;Andrew J. Leger;Sanjay K. Pandey;A. Robert MacLeod

  • Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2

    Ami Mankodi;Carl R. Urbinati;Qiu-Ping Yuan;Richard T Moxley

  • Gene expression profile of aging in human muscle

    Stephen Welle;Andrew I Brooks;Joseph M Delehanty;Nancy Needler

  • Reversal of RNA Dominance by Displacement of Protein Sequestered on Triplet Repeat RNA

    Thurman M. Wheeler;Krzysztof Sobczak;John D. Lueck;Robert J. Osborne

  • Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy.

    Rahul N. Kanadia;Jihae Shin;Yuan Yuan;Stuart G. Beattie

  • Myofibrillar protein synthesis in young and old men

    S. Welle;C. Thornton;R. Jozefowicz;M. Statt

  • Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy

    Hongqing Du;Melissa S Cline;Robert J Osborne;Daniel L Tuttle

  • Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy.

    Susan A. M. Mulders;Walther J. A. A. van den Broek;Thurman M. Wheeler;Huib J. E. Croes

  • Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes

    Charles A. Thornton;Keith Johnson;Richard T. Moxley

  • Randomized controlled trial of IVIg in untreated chronic inflammatory demyelinating polyradiculoneuropathy.

    J. R. Mendell;R. J. Barohn;M. L. Freimer;J. T. Kissel

  • Effect of age on muscle hypertrophy induced by resistance training

    Stephen Welle;Saara Totterman;Charles Thornton

  • Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy

    Thurman M. Wheeler;John D. Lueck;Maurice S. Swanson;Robert T. Dirksen

  • Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene

    Charles A. Thornton;James P. Wymer;Zachary Simmons;Carolyn McClain

  • Loss of MBNL leads to disruption of developmentally regulated alternative polyadenylation in RNA-mediated disease.

    Ranjan Batra;Konstantinos Charizanis;Mini Manchanda;Apoorva Mohan

  • RNA-dominant diseases

    Robert J. Osborne;Charles A. Thornton

Frequent Co-Authors

Maurice S. Swanson
Maurice S. Swanson University of Florida
Michael P. McDermott
Michael P. McDermott University of Rochester
Rabi Tawil
Rabi Tawil University of Rochester Medical Center
Matthew D. Disney
Matthew D. Disney Scripps Research Institute
Robert T. Dirksen
Robert T. Dirksen University of Rochester
Eric T. Wang
Eric T. Wang University of Florida
John T. Kissel
John T. Kissel The Ohio State University
Richard J. Barohn
Richard J. Barohn University of Missouri
Ralf Krahe
Ralf Krahe The University of Texas MD Anderson Cancer Center
Sanjay K. Pandey
Sanjay K. Pandey George Washington University

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