Mitochonic Acid 5 (MA-5) Facilitates ATP Synthase Oligomerization and Cell Survival in Various Mitochondrial Diseases
2017 · EBioMedicine · 67 citations
https://doi.org/10.1016/j.ebiom.2017.05.016
H
Hiroko Shimbo
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Hiroko Shimbo is an academic researcher from Tokyo Metropolitan Institute of Medical Science. The author has contributed to research in topics: Metabolism and Genetic Disorders & Mitochondrial Function and Pathology & Genetics and Neurodevelopmental Disorders. The author has an h-index of 15, co-authored 40 publications.
ORCID: 0000-0003-1677-752XPapers by this author
worksUrine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8
2013 · Brain and Development · 16 citations
https://doi.org/10.1016/j.braindev.2013.08.004
A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromes
2011 · Amino Acids · 14 citations
https://doi.org/10.1007/s00726-011-1146-1
A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome
2014 · Molecular Genetics and Metabolism Reports · 2 citations
https://doi.org/10.1016/j.ymgmr.2014.02.006
A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX
2014 · Journal of Human Genetics · 2 citations
https://doi.org/10.1038/jhg.2014.45
Effects of SLC6A8 mutation-induced creatine deficiency on cellular function in fibroblasts
2025 · Scientific Reports · 1 citations
https://doi.org/10.1038/s41598-025-11386-z
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