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Anselm A. Zdebik

University College London

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Arginine-selective modulation of the lysosomal transporter PQLC2 through a gate-tuning mechanism.

2021 Proceedings of the National Academy of Sciences of the United States of America
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Neurodegeneration and Epilepsy in a Zebrafish Model of CLN3 Disease (Batten Disease)

2016 PLOS ONE
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Magnesium: The Disregarded Cation

2015 Mayo Clinic Proceedings
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A missense mutation in the KCTD17 gene causes autosomal dominant myoclonus-dystonia

2015
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Renal involvement in primary Sjögren’s syndrome

2015 Rheumatology
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VALPROIC ACID EXTENDS LIFESPAN OF THE ZEBRAFISH MODEL OF CLN2 DISEASE (LATE INFANTILE NEURONAL CEROID LIPOFUSCINOSIS)

2015 Journal of Neurology, Neurosurgery, and Psychiatry
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Pathophysiology of the p.A167V Mutation of KCNJ10 in mammalian cells

2014
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Loss of function through heteromerisation - a novel disease mechanism for EAST syndrome

2014
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KCNJ10 Mutations Display Differential Sensitivity to Heteromerisation with KCNJ16

2013 Nephron Physiology
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Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome

2013 Disease Models & Mechanisms
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Citations (39)