Yu-ichi Goto

Tokyo, Japan

Last Updated: 09/26/2026

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Found 115 publications

Mutant PLP1 impairs COPII vesicle formation via ER calcium depletion in Pelizaeus-Merzbacher disease.

Mutant PLP1 impairs COPII vesicle formation via ER calcium depletion in Pelizaeus-Merzbacher disease.

Journal: Neurobiology of disease
Published: November 20, 2025

Mitochondrial Nephropathy With m.5538G>A Mutation Within the tRNA-Trp Region Assessed by Mitochondrial Function Analysis: A Case Report.

Mitochondrial Nephropathy With m.5538G>A Mutation Within the tRNA-Trp Region Assessed by Mitochondrial Function Analysis: A Case Report.

Journal: Nephrology (Carlton, Vic.)
Published: April 12, 2025

A novel m.14677 T > C variant in mitochondrial tRNAGlu gene causes chronic progressive external ophthalmoplegia.

A novel m.14677 T > C variant in mitochondrial tRNAGlu gene causes chronic progressive external ophthalmoplegia.

Journal: Journal of human genetics
Published: April 05, 2025

Substitutions of nucleotides at the 3' ends of COL6A1/2/3 exons induce exon skipping associated with collagen VI-related muscular dystrophies and therapeutic strategies.

Substitutions of nucleotides at the 3' ends of COL6A1/2/3 exons induce exon skipping associated with collagen VI-related muscular dystrophies and therapeutic strategies.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 24, 2024

Optimization of mtDNA-targeted platinum TALENs for bi-directionally modifying heteroplasmy levels in patient-derived m.3243A>G-iPSCs.

Optimization of mtDNA-targeted platinum TALENs for bi-directionally modifying heteroplasmy levels in patient-derived m.3243A>G-iPSCs.

Journal: Molecular therapy. Nucleic acids
Published: July 16, 2024

WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females.

WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females.

Journal: Journal of medical genetics
Published: April 25, 2024

Genotype-relevant neuroimaging features in low-grade epilepsy-associated tumors.

Genotype-relevant neuroimaging features in low-grade epilepsy-associated tumors.

Journal: Frontiers in neurology
Published: April 17, 2024

Retrotrans-genomics identifies aberrant THE1B endogenous retrovirus fusion transcripts in the pathogenesis of sarcoidosis.

Retrotrans-genomics identifies aberrant THE1B endogenous retrovirus fusion transcripts in the pathogenesis of sarcoidosis.

Journal: Nature communications
Published: February 29, 2024

Neuronal autoantibodies in the cerebrospinal fluid of 148 patients with schizophrenia and 151 healthy controls.

Neuronal autoantibodies in the cerebrospinal fluid of 148 patients with schizophrenia and 151 healthy controls.

Journal: Heliyon
Published: January 18, 2024

Abnormality in GABAergic postsynaptic transmission associated with anxiety in Bronx waltzer mice with an Srrm4 mutation.

Abnormality in GABAergic postsynaptic transmission associated with anxiety in Bronx waltzer mice with an Srrm4 mutation.

Journal: IBRO neuroscience reports
Published: September 12, 2023

Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis.

Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis.

Journal: PLoS genetics
Published: January 21, 2023

Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome.

Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome.

Journal: BMC medical genomics
Published: November 25, 2022
Showing 1-12 of 115

Last Updated: 09/26/2026