List of works - Shinya Yamamoto

A Genetic Screen for Genes That Impact Peroxisomes in Drosophila Identifies Candidate Genes for Human Disease

scientific article published on 07 January 2020

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

scientific journal article

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

scientific journal article

A gene-specific T2A-GAL4 library for Drosophila.

scientific article published on 22 March 2018

A mutation in EGF repeat-8 of Notch discriminates between Serrate/Jagged and Delta family ligands

scientific article

A voltage-gated calcium channel regulates lysosomal fusion with endosomes and autophagosomes and is required for neuronal homeostasis

scientific article

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

scientific article published on 16 February 2018

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

scientific article published on 24 July 2017

Crag is a GEF for Rab11 required for rhodopsin trafficking and maintenance of adult photoreceptor cells ⬇️

scientific article published on December 4, 2012

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

scientific article published on 18 July 2019

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

scientific article published on 15 October 2019

Dopamine dynamics and signaling in Drosophila: an overview of genes, drugs and behavioral paradigms

scientific article

Drosophila EHBP1 regulates Scabrous secretion during Notch-mediated lateral inhibition.

scientific article published on 20 June 2013

Drosophila Tempura, a novel protein prenyltransferase α subunit, regulates notch signaling via Rab1 and Rab11.

scientific article

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Fruit flies in biomedical research.

scientific article

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

scientific article published on 01 July 2018

Glial lipid droplets and ROS induced by mitochondrial defects promote neurodegeneration

scientific article

Impaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress

scientific article published on 15 July 2015

Integration of Drosophila and Human Genetics to Understand Notch Signaling Related Diseases

article

Intestinal gene expression in TNBS treated mice using genechip and subtractive cDNA analysis: implications for Crohn's disease

scientific article published on November 2005

Large-scale identification of chemically induced mutations in Drosophila melanogaster.

scientific article

Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration.

scientific article

Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling

scientific article published on 19 January 2022

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration

scientific journal article

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

scientific article published on 03 May 2017

Making sense out of missense mutations: Mechanistic dissection of Notch receptors through structure-function studies in Drosophila

scientific article published on 13 January 2020

Maternal almondex, a neurogenic gene, is required for proper subcellular Notch distribution in early Drosophila embryogenesis

scientific article published on 28 November 2019

Mitochondrial fusion but not fission regulates larval growth and synaptic development through steroid hormone production

scientific article

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

scientific article published on September 2017

Morgan's legacy: fruit flies and the functional annotation of conserved genes.

scientific article published on September 2015

Neutral Competition for Drosophila Follicle and Cyst Stem Cell Niches Requires Vesicle Trafficking Genes

scientific article

Pleiotropic neuropathological and biochemical alterations associated with Myo5a mutation in a rat Model.

scientific article published on 4 December 2017

Post-Developmental Roles of Notch Signaling in the Nervous System

scientific article published on 01 July 2020

Preface. Notch signaling

Protein phosphatase 1ß limits ring canal constriction during Drosophila germline cyst formation

scientific article (publication date: 2013)

Rapid and Integrative Discovery of Retina Regulatory Molecules

scientific article published on 01 August 2018

Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease

scientific article

Regulation of embryo outgrowth by a morphogenic factor, epimorphin, in the mouse

scientific journal article

Sequoia regulates cell fate decisions in the external sensory organs of adult Drosophila

scientific article published on 15 May 2009

Shared mechanisms between Drosophila peripheral nervous system development and human neurodegenerative diseases

scientific article published on 22 April 2014

TM2D genes regulate Notch signaling and neuronal function in Drosophila

scientific article published on 14 December 2021

The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit ⬇️

scientific article published on March 18, 2013

The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases

scientific article published on 01 November 2019

The retromer complex is required for rhodopsin recycling and its loss leads to photoreceptor degeneration

scientific article (publication date: April 2014)

Ubr3, a Novel Modulator of Hh Signaling Affects the Degradation of Costal-2 and Kif7 through Poly-ubiquitination

scientific article

Unweaving the role of nuclear Lamins in neural circuit integrity

scientific article published on 10 September 2018

Up-regulation of NOD1 and NOD2 through TLR4 and TNF-alpha in LPS-treated murine macrophages

scientific article published on May 2006

Use of DNA array to screen blastocyst genes potentially involved in the process of murine implantation

scientific article published in December 2003

WAC Regulates mTOR Activity by Acting as an Adaptor for the TTT and Pontin/Reptin Complexes

scientific article published on January 2016

dEHBP1 controls exocytosis and recycling of Delta during asymmetric divisions

scientific article

List of works by Shinya Yamamoto

A Genetic Screen for Genes That Impact Peroxisomes in Drosophila Identifies Candidate Genes for Human Disease

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

A gene-specific T2A-GAL4 library for Drosophila.

A mutation in EGF repeat-8 of Notch discriminates between Serrate/Jagged and Delta family ligands

A voltage-gated calcium channel regulates lysosomal fusion with endosomes and autophagosomes and is required for neuronal homeostasis

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

Crag is a GEF for Rab11 required for rhodopsin trafficking and maintenance of adult photoreceptor cells ⬇️

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Dopamine dynamics and signaling in Drosophila: an overview of genes, drugs and behavioral paradigms

Drosophila EHBP1 regulates Scabrous secretion during Notch-mediated lateral inhibition.

Drosophila Tempura, a novel protein prenyltransferase α subunit, regulates notch signaling via Rab1 and Rab11.

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Fruit flies in biomedical research.

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

Glial lipid droplets and ROS induced by mitochondrial defects promote neurodegeneration

Impaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress

Integration of Drosophila and Human Genetics to Understand Notch Signaling Related Diseases

Intestinal gene expression in TNBS treated mice using genechip and subtractive cDNA analysis: implications for Crohn's disease

Large-scale identification of chemically induced mutations in Drosophila melanogaster.

Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration.

Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

Making sense out of missense mutations: Mechanistic dissection of Notch receptors through structure-function studies in Drosophila

Maternal almondex, a neurogenic gene, is required for proper subcellular Notch distribution in early Drosophila embryogenesis

Mitochondrial fusion but not fission regulates larval growth and synaptic development through steroid hormone production

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

Morgan's legacy: fruit flies and the functional annotation of conserved genes.

Neutral Competition for Drosophila Follicle and Cyst Stem Cell Niches Requires Vesicle Trafficking Genes

Pleiotropic neuropathological and biochemical alterations associated with Myo5a mutation in a rat Model.

Post-Developmental Roles of Notch Signaling in the Nervous System

Preface. Notch signaling

Protein phosphatase 1ß limits ring canal constriction during Drosophila germline cyst formation

Rapid and Integrative Discovery of Retina Regulatory Molecules

Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease

Regulation of embryo outgrowth by a morphogenic factor, epimorphin, in the mouse

Sequoia regulates cell fate decisions in the external sensory organs of adult Drosophila

Shared mechanisms between Drosophila peripheral nervous system development and human neurodegenerative diseases

TM2D genes regulate Notch signaling and neuronal function in Drosophila

The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit ⬇️

The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases

The retromer complex is required for rhodopsin recycling and its loss leads to photoreceptor degeneration

Ubr3, a Novel Modulator of Hh Signaling Affects the Degradation of Costal-2 and Kif7 through Poly-ubiquitination

Unweaving the role of nuclear Lamins in neural circuit integrity

Up-regulation of NOD1 and NOD2 through TLR4 and TNF-alpha in LPS-treated murine macrophages

Use of DNA array to screen blastocyst genes potentially involved in the process of murine implantation

WAC Regulates mTOR Activity by Acting as an Adaptor for the TTT and Pontin/Reptin Complexes

dEHBP1 controls exocytosis and recycling of Delta during asymmetric divisions