Search Results - "Hadano, Shinji"
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AI-based protein structure databases have the potential to accelerate rare diseases research: AlphaFoldDB and the case of IAHSP/Alsin
Published in Drug discovery today (01-06-2022)“…•AI-based protein structure databases support rare disease drug discovery programs.•The human AlphaFoldDB alsin model is in line with homology modeling…”
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The N-terminal intrinsically disordered region mediates intracellular localization and self-oligomerization of ALS2
Published in Biochemical and biophysical research communications (10-09-2021)“…ALS2, a product of the causative gene for familial amyotrophic lateral sclerosis (ALS) type 2, plays a pivotal role in the regulation of endosome dynamics by…”
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Central nervous system specific high molecular weight ALS2/alsin homophilic complex is enriched in mouse brain synaptosomes
Published in Biochemical and biophysical research communications (01-01-2023)“…ALS2/alsin, the causative gene product for a number of juvenile recessive motor neuron diseases, acts as a guanine nucleotide exchange factor (GEF) for Rab5,…”
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ALS2, the small GTPase Rab17-interacting protein, regulates maturation and sorting of Rab17-associated endosomes
Published in Biochemical and biophysical research communications (19-03-2020)“…Small GTPase Rab17 has been shown to regulate a wide range of physiological processes including cell migration in tumor cells and dendrite morphogenesis in…”
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High-throughput quantitative analysis of axonal transport in cultured neurons from SOD1H46R ALS mice by using a microfluidic device
Published in Neuroscience research (01-01-2022)“…•A modified microfluidic device for high-throughput axonal transport analysis is developed.•Number of motile acidic vesicles in axons is increased by mutant…”
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Personalized Treatment for Infantile Ascending Hereditary Spastic Paralysis Based on In Silico Strategies
Published in Molecules (Basel, Switzerland) (01-10-2022)“…Infantile onset hereditary spastic paralysis (IAHSP) is a rare neurological disease diagnosed in less than 50 children worldwide. It is transmitted with a…”
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A novel function of N-linked glycoproteins, alpha-2-HS-glycoprotein and hemopexin: Implications for small molecule compound-mediated neuroprotection
Published in PloS one (09-10-2017)“…Therapeutic agents to the central nervous system (CNS) need to be efficiently delivered to the target site of action at appropriate therapeutic levels…”
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SQSTM1, a protective factor of SOD1-linked motor neuron disease, regulates the accumulation and distribution of ubiquitinated protein aggregates in neuron
Published in Neurochemistry international (01-09-2022)“…Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by selective loss of motor neurons in the brain and spinal cord…”
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Functional links between SQSTM1 and ALS2 in the pathogenesis of ALS: cumulative impact on the protection against mutant SOD1-mediated motor dysfunction in mice
Published in Human molecular genetics (01-08-2016)“…Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by a selective loss of motor neurons in the brain and spinal cord…”
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Rare CRHR2 and GRM8 variants identified as candidate factors associated with eating disorders in Japanese patients by whole exome sequencing
Published in Heliyon (30-04-2024)“…Eating disorders (EDs) are a type of psychiatric disorder characterized by pathological eating and related behavior and considered to be highly heritable. The…”
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Monitoring the autophagy-endolysosomal system using monomeric Keima-fused MAP1LC3B
Published in PloS one (08-06-2020)“…The autophagy-endolysosomal pathway is an evolutionally conserved degradation system that is tightly linked to a wide variety of physiological processes…”
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Efficient differentiation and polarization of primary cultured neurons on poly(lactic acid) scaffolds with microgrooved structures
Published in Scientific reports (21-04-2020)“…Synthetic biodegradable polymers including poly(lactic acid) (PLA) are attractive cell culture substrates because their surfaces can be micropatterned to…”
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Loss of ALS2/Alsin exacerbates motor dysfunction in a SOD1-expressing mouse ALS model by disturbing endolysosomal trafficking
Published in PloS one (22-03-2010)“…ALS2/alsin is a guanine nucleotide exchange factor for the small GTPase Rab5 and involved in macropinocytosis-associated endosome fusion and trafficking, and…”
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Aberration of miRNAs Expression in Leukocytes from Sporadic Amyotrophic Lateral Sclerosis
Published in Frontiers in molecular neuroscience (17-08-2016)“…Accumulating evidence indicates that miRNAs play an important role in the development of amyotrophic lateral sclerosis (ALS). Most of previous studies on miRNA…”
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De-erosion of X chromosome dosage compensation by the editing of XIST regulatory regions restores the differentiation potential in hPSCs
Published in Cell reports methods (19-12-2022)“…Human pluripotent stem cells (hPSCs) regularly and irreversibly show the erosion of X chromosome inactivation (XCI) by long non-coding RNA (lncRNA) XIST…”
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Bromocriptine methylate suppresses glial inflammation and moderates disease progression in a mouse model of amyotrophic lateral sclerosis
Published in Experimental neurology (01-11-2011)“…Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disease characterized by a selective loss of upper and lower motor neurons. Since…”
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Six SQSTM1 mutations in a Chinese amyotrophic lateral sclerosis cohort
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (27-08-2015)“…The purpose of this study was to identify SQSTM1 gene mutations, estimate survival based on the progression rate of the revised amyotrophic lateral sclerosis…”
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Dysregulation of the Autophagy-Endolysosomal System in Amyotrophic Lateral Sclerosis and Related Motor Neuron Diseases
Published in Neurology Research International (2012)“…Amyotrophic lateral sclerosis (ALS) is a heterogeneous group of incurable motor neuron diseases (MNDs) characterized by a selective loss of upper and lower…”
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Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss
Published in EBioMedicine (01-07-2020)“…Alopecia areata (AA) is considered a highly heritable, T-cell-mediated autoimmune disease of the hair follicle. However, no convincing susceptibility gene has…”
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The Rab5 Activator ALS2/alsin Acts as a Novel Rac1 Effector through Rac1-activated Endocytosis
Published in The Journal of biological chemistry (01-06-2007)“…Mutations in the ALS2 gene cause a number of recessive motor neuron diseases, indicating that the ALS2 protein (ALS2/alsin) is vital for motor neurons. ALS2…”
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