Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter

Author:

Kahle Kristopher T.1,Flores Bianca2,Bharucha-Goebel Diana34,Zhang Jinwei15,Donkervoort Sandra3,Hegde Madhuri6,Begum Gulnaz78,Duran Daniel1,Liang Bo9,Sun Dandan78,Bönnemann Carsten G.3,Delpire Eric2

Affiliation:

1. Departments of Neurosurgery and Pediatrics and Cellular and Molecular Physiology, Centers for Mendelian Genomics, Yale School of Medicine, New Haven, CT 06510, USA.

2. Department of Anesthesiology, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.

3. Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20814, USA.

4. Department of Neurology, Children’s National Health System, Washington, DC 20010, USA.

5. MRC Protein Phosphorylation and Ubiquitylation Unit, College of Life Sciences, University of Dundee, Dundee DD1 5EH, Scotland.

6. Department of Human Genetics, Emory University, Atlanta, GA 30322, USA.

7. Department of Neurology, University of Pittsburgh, Pittsburgh, PA 15213, USA.

8. Veterans Affairs Pittsburgh Health Care System, Geriatric Research, Educational and Clinical Center Pittsburgh, PA 15240, USA.

9. Departments of Microbiology and Immunobiology, Harvard Medical School, Boston, MA 02114, USA.

Abstract

Evaluation of a patient with peripheral motor weakness reveals a key role for phosphorylation-dependent regulation of the transporter KCC3 in the peripheral nervous system.

Funder

Harvard_Massachusetts Institute of Technology Neuroscience

Manton Center for Orphan Disease Research at Harvard Medical School

March of Dimes Basil O'Connor Award

NINDS

NIH

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Cell Biology,Molecular Biology,Biochemistry

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1. The evolving spectrum of complex inherited neuropathies;Current Opinion in Neurology;2024-07-31

2. The biogenesis of potassium transporters: implications of disease-associated mutations;Critical Reviews in Biochemistry and Molecular Biology;2024-07

3. Understanding and Modeling the Pathophysiology of Hydrocephalus: In Search of Better Treatment Options;Physiologia;2024-04-17

4. Hereditary Motor Neuropathy;Reference Module in Neuroscience and Biobehavioral Psychology;2024

5. The role of SLC12A family of cation-chloride cotransporters and drug discovery methodologies;Journal of Pharmaceutical Analysis;2023-12

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