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Rebecca Meyer-Schuman Selected Research

Histidine-tRNA Ligase

1/2020Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome.
1/2018Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.

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Rebecca Meyer-Schuman Research Topics

Disease

1Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
01/2020
1Usher Syndromes (Usher Syndrome)
01/2020
1Type 2D Charcot-Marie-Tooth disease
12/2019
1Microcephaly
01/2019
1Peripheral Nervous System Diseases (PNS Diseases)
01/2018

Drug/Important Bio-Agent (IBA)

2Histidine-tRNA LigaseIBA
01/2020 - 01/2018
1Amino AcidsFDA Link
01/2020
1EnzymesIBA
01/2020
1Histidine (L-Histidine)FDA Link
01/2020
1Transfer RNA (tRNA)IBA
01/2020
1Glycine-tRNA LigaseIBA
12/2019
1cysteinyl-tRNA synthetaseIBA
01/2019

Therapy/Procedure

1Therapeutics
12/2019