Proteome analysis of soluble nuclear proteins reveals that HMGB1/2 suppress genotoxic stress in polyglutamine diseases

Mei‐Ling Qi, Kazuhiko Tagawa, Yasushi Enokido, +9

Nature Cell Biology

Disease MechanismProteome AnalysisGeneticsMedicineDegenerative Pathology +5

Biallelic GALM pathogenic variants cause a novel type of galactosemia

Yoichi Wada, Atsuo Kikuchi, Natsuko Arai‐Ichinoi, +21

Genetics in Medicine

Novel TypeGeneticsPathogenesisGlycobiologyPathology +2

Long‐term outcome of urea cycle disorders: Report from a nationwide study in Japan

Jun Kido, Shirou Matsumoto, Johannes Häberle, +10

Journal of Inherited Metabolic Disease

Radiation myelopathy: significance of gadolinium-DTPA enhancement in the diagnosis

Makoto Michikawa, Yoichi Wada, M. Sano, +4

Neuroradiology

Neuro-oncologyMedical ImagingRadiation TherapyRadiation MyelopathyMedicine +5

A frequent 1085delC/insGAAG mutation in the RDH5 gene in Japanese patients with fundus albipunctatus.

Yoichi Wada, Takanori Abe, Nobuo Fuse, +1

PubMed

Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice

Yoichi Wada, Atsuo Kikuchi, Akimune Kaga, +16

PLoS Genetics

Ocular DiseaseImmunologyExperimental PathologyPathologyOxidative Stress +22

PQBP‐1 is expressed predominantly in the central nervous system during development

Yunglong Qi, Masataka Hoshino, Yoichi Wada, +5

European Journal of Neuroscience

Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan

Jun Kido, Johannes Häberle, Keishin Sugawara, +11

Journal of Inherited Metabolic Disease

The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants

Shinya Iwasawa, Atsuo Kikuchi, Yoichi Wada, +4

Molecular Genetics and Metabolism

Allelic VariantSomatic VariantMendelian DisorderMedicineGenetics +9

Pattern of epitopic reactivity of the anti-Hu antibody on HuD with and without paraneoplastic syndrome

Nobuyuki Sodeyama, Kazuyuki Ishida, Kurt A. Jaeckle, +5

Journal of Neurology Neurosurgery & Psychiatry

ImmunodeficienciesImmunologyImmunodominancePathologyImmunotherapy +14