「Impact of Gba2 on neuronopathic Gaucher’s disease and α-synuclein accumulation in medaka (Oryzias latipes)」の関連論文
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Conformational change of RNA‐helicase DHX30 by ALS/FTD‐linked FUS induces mitochondrial dysfunction and cytosolic aggregates
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Wilson’s disease model establishment from human induced pluripotent stem cells
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Reverse Genetic Studies on Mitochondrial tRNA-related Disorders
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Ndufs4 ablation shows an elevated GFAP and a decreased synaptophysin expression in mouse hippocampus.
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Presenilin is essential for ApoE secretion, a novel role of presenilin involved in Alzheimer’s disease pathogenesis
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Characteristics of cortical spreading depression and c-Fos expression in transgenic mice having a mutation associated with familial hemiplegic migraine 2 (本文)
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Parkinson’s disease-associated ATP13A2/PARK9 functions as a lysosomal H⁺,K⁺-ATPase
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Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation
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Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7
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UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes
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Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing
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A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism
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Pathogenic mutation of TDP-43 impairs RNA processing in a cell type-specific manner : implications for the pathogenesis of ALS/FTLD (本文)
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Identification of novel mutations and reassignment of archival xeroderma pigmentosum group C cell strains from Japanese patients
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DNA methyltransferase 3B plays a protective role against hepatocarcinogenesis caused by chronic inflammation via maintaining mitochondrial homeostasis
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A motor neuron disease-associated mutation produces non-glycosylated Seipin that induces ER stress and apoptosis by inactivating SERCA2b
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Study of Mitochonic Acid 5 to improve neuromuscular dysfunction associated with aging and diseases using C. elegans
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Identification of calcium and integrin-binding protein 1 (CIB1) as a novel regulator of production of Amyloid β peptide using CRISPR/Cas9-based screening system
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Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
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Neuronal glutathione loss leads to neurodegeneration involving gasdermin activation
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Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency
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Homozygous variant p.Ser427Pro in PNPLA1 is a preventive factor from atopic dermatitis
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Neuroinflammation in neurodegenerative disease
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Analyses of genetic and retinal lesions in Ccdc85c knockout rats: a rat model of genetic hydrocephalus
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Autism-associated mutation in Hevin/Sparcl1 induces endoplasmic reticulum stress through structural instability
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Inhibition of glycine cleavage system by pyridoxine 5'-phosphate causes synthetic lethality in glyA yggS and serA yggS in Escherichia coli
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Remote solid cancers rewire hepatic nitrogen metabolism via host nicotinamide-N-methyltransferase
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Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan
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Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan
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Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency
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BRCA1 haploinsufficiency promotes chromosomal amplification under Fenton reaction-based carcinogenesis through ferroptosis-resistance
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Improvement of mouse genome editing protocol and the application:investigation of the physiological roles of glycine receptor alpha 4 subunit.
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Discovery and biological significance of the sialate:O-sulfotransferases in vertebrates
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Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification
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Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2‐mutation carriers
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Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy
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Molecular Mechanism of Quinclorac Resistance in Multiple-Herbicide Resistant Echinochloa phyllopogon
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A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease
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miR-142 induces accumulation of reactive oxygen species (ROS) by inhibiting pexophagy in aged bone marrow mesenchymal stem cells
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l-Asparaginase regulates mTORC1 activity via a TSC2-dependent pathway in pancreatic beta cells
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Dilated cardiomyopathy-linked heat shock protein family D member 1 mutations cause up-regulation of reactive oxygen species and autophagy through mitochondrial dysfunction (本文)
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Lionheart LincRNA alleviates cardiac systolic dysfunction under pressure overload
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MAGI-2 orchestrates the localization of backbone proteins in the slit diaphragm of podocytes
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MDGA1-deficiency attenuates prepulse inhibition with alterations of dopamine and serotonin metabolism : An ex vivo HPLC-ECD analysis
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Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors
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ATG16L1 negatively regulates RICK/RIP2-mediated innate immune responses
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The PDGF receptor alpha signal regulates the senescence of neural stem cells and their niche via the close functional correlation with NAD
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Constitutively active signaling of MDA5 in Treg cells causes apoptosis of Treg cells and results in autoimmune diseases
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Phosphorylation of the anaphase promoting complex activator FZR1/CDH1 is required for meiosis II entry in mouse male germ cell (本文)
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Riboflavin transporter SLC52A1, a target of p53, suppresses cellular senescence by activating mitochondrial complex II