Works by Sakai, Norio
Results: 136
Carbonsäurefluoride in der Katalyse durch späte Übergangsmetalle.
- Published in:
- Angewandte Chemie, 2020, v. 132, n. 2, p. 584, doi. 10.1002/ange.201902805
- By:
- Publication type:
- Article
Efficacy and safety of migalastat in a Japanese population: a subgroup analysis of the ATTRACT study.
- Published in:
- Clinical & Experimental Nephrology, 2020, v. 24, n. 2, p. 157, doi. 10.1007/s10157-019-01810-w
- By:
- Publication type:
- Article
Predominant Corticospinal Tract Involvement in a Late Infant with Krabbe Disease.
- Published in:
- Japanese Clinical Medicine, 2016, n. 7, p. 23, doi. 10.4137/JCM.S40470
- By:
- Publication type:
- Article
The Role of Agricultural Land Use Pattern Dynamics on Elephant Habitat Depletion and Human-Elephant Conflict in Sri Lanka.
- Published in:
- Sustainability (2071-1050), 2019, v. 11, n. 10, p. 2818, doi. 10.3390/su11102818
- By:
- Publication type:
- Article
Aggregate formation of mutant protein kinase C gamma found in spinocerebellar ataxia type 14 impairs ubiquitin-proteasome system and induces endoplasmic reticulum stress.
- Published in:
- European Journal of Neuroscience, 2007, v. 26, n. 11, p. 3126, doi. 10.1111/j.1460-9568.2007.05933.x
- By:
- Publication type:
- Article
Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2‐associated syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1984, doi. 10.1002/ajmg.a.63225
- By:
- Publication type:
- Article
Functional landscape of genome-wide postzygotic somatic mutations between monozygotic twins.
- Published in:
- DNA Research, 2024, v. 31, n. 5, p. 1, doi. 10.1093/dnares/dsae028
- By:
- Publication type:
- Article
Molecular pathophysiology of neurodegenerative disease caused by γPKC mutations.
- Published in:
- World Journal of Biological Psychiatry, 2011, v. 12, p. 95, doi. 10.3109/15622975.2011.598688
- By:
- Publication type:
- Article
The role of cysteine string protein alpha (CSPα) phosphorylation at Serine 10, and 34, by protein kinase Cγ for presynaptic maintenance.
- Published in:
- Journal of Neuroscience, 2018, v. 38, n. 2, p. 278, doi. 10.1523/JNEUROSCI.1649-17.2017
- By:
- Publication type:
- Article
The Role of Pak-Interacting Exchange Factor-ß Phosphorylation at Serines 340 and 583 by PKCγ in Dopamine Release.
- Published in:
- Journal of Neuroscience, 2014, v. 34, n. 28, p. 9268, doi. 10.1523/JNEUROSCI.4278-13.2014
- By:
- Publication type:
- Article
Inhibition of apoptosis by the actin-regulatory protein gelsolin.
- Published in:
- EMBO Journal, 1997, v. 16, n. 15, p. 4650, doi. 10.1093/emboj/16.15.4650
- By:
- Publication type:
- Article
Embryonic stem cell-derived neuron models of Parkinson's disease exhibit delayed neuronal death.
- Published in:
- Journal of Neurochemistry, 2006, v. 98, n. 1, p. 45, doi. 10.1111/j.1471-4159.2006.03815.x
- By:
- Publication type:
- Article
Modulation of Serotonin Transporter Activity by a Protein Kinase C Activator and an Inhibitor of Type 1 and 2A Serine/Threonine Phosphatases.
- Published in:
- Journal of Neurochemistry, 1997, v. 68, n. 6, p. 2618, doi. 10.1046/j.1471-4159.1997.68062618.x
- By:
- Publication type:
- Article
Molecular Cloning and Expression of cDNA for Murine Galactocerebrosidase and Mutation Analysis of the Twitcher Mouse, a Model of Krabbe's Disease.
- Published in:
- Journal of Neurochemistry, 1996, v. 66, n. 3, p. 1118, doi. 10.1046/j.1471-4159.1996.66031118.x
- By:
- Publication type:
- Article
Twin research shows glycan changes are more susceptible to environmental factors than their carrier glycoproteins.
- Published in:
- Glycoconjugate Journal, 2023, v. 40, n. 2, p. 191, doi. 10.1007/s10719-023-10099-7
- By:
- Publication type:
- Article
Involvement of phosphoinositide 3‐kinase signaling pathway in chondrocytic differentiation of ATDC5 cells: Application of a gene‐trap mutagenesis.
- Published in:
- Journal of Cellular Biochemistry, 2004, v. 93, n. 2, p. 418
- By:
- Publication type:
- Article
Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4.
- Published in:
- Movement Disorders, 2006, v. 21, n. 9, p. 1355, doi. 10.1002/mds.20970
- By:
- Publication type:
- Article
Deregulation of the actin cytoskeleton and macropinocytosis in response to phorbol ester by the mutant protein kinase C gamma that causes spinocerebellar ataxia type 14.
- Published in:
- Frontiers in Physiology, 2014, v. 5, p. 1, doi. 10.3389/fphys.2014.00126
- By:
- Publication type:
- Article
Experiences of mothers of long-term surviving patients with cerebral adrenoleukodystrophy: a qualitative study.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03424-2
- By:
- Publication type:
- Article
SSCP analysis by RT-PCR for the prenatal diagnosis of Niemann-Pick disease type C.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.
- Published in:
- Human Mutation, 2008, v. 29, n. 2, p. 331, doi. 10.1002/humu.9520
- By:
- Publication type:
- Article
Indium‐Catalyzed Deoxygenation of Sulfoxides with Hydrosilanes.
- Published in:
- Asian Journal of Organic Chemistry, 2021, v. 10, n. 4, p. 845, doi. 10.1002/ajoc.202100063
- By:
- Publication type:
- Article
One‐Pot Synthesis of Dithioacetals and Diselenoacetals: An Indium‐Catalyzed Reductive Insertion into Disulfides and Diselenides with Orthoesters as a Methylene Source.
- Published in:
- Asian Journal of Organic Chemistry, 2020, v. 9, n. 4, p. 446, doi. 10.1002/ajoc.202000053
- By:
- Publication type:
- Article
One‐Pot Synthesis of Dithioacetals and Diselenoacetals: An Indium‐Catalyzed Reductive Insertion into Disulfides and Diselenides with Orthoesters as a Methylene Source.
- Published in:
- Asian Journal of Organic Chemistry, 2020, v. 9, n. 4, p. 600, doi. 10.1002/ajoc.201900751
- By:
- Publication type:
- Article
Features and mechanisms of propofol-induced protein kinase C (PKC) translocation and activation in living cells.
- Published in:
- Frontiers in Pharmacology, 2023, p. 1, doi. 10.3389/fphar.2023.1284586
- By:
- Publication type:
- Article
Enhanced processivity of Dnmt1 by monoubiquitinated histone H3.
- Published in:
- Genes to Cells, 2020, v. 25, n. 1, p. 22, doi. 10.1111/gtc.12732
- By:
- Publication type:
- Article
Mutant protein kinase C gamma that causes spinocerebellar ataxia type 14 (SCA14) is selectively degraded by autophagy.
- Published in:
- Genes to Cells, 2010, v. 15, n. 5, p. 425, doi. 10.1111/j.1365-2443.2010.01395.x
- By:
- Publication type:
- Article
Fused protein of δPKC activation loop and PDK1-interacting fragment (δAL-PIF) functions as a pseudosubstrate and an inhibitory molecule for PDK1 when expressed in cells.
- Published in:
- Genes to Cells, 2006, v. 11, n. 9, p. 1051, doi. 10.1111/j.1365-2443.2006.01003.x
- By:
- Publication type:
- Article
Importance of chroman ring and tyrosine phosphorylation in the subtype-specific translocation and activation of diacylglycerol kinaseα byd-α-tocopherol.
- Published in:
- Genes to Cells, 2005, v. 10, n. 4, p. 311, doi. 10.1111/j.1365-2443.2005.00842.x
- By:
- Publication type:
- Article
Phosphorylation of PKC activation loop plays an important role in receptor-mediated translocation of PKC.
- Published in:
- Genes to Cells, 2005, v. 10, n. 3, p. 225, doi. 10.1111/j.1365-2443.2005.00830.x
- By:
- Publication type:
- Article
Propagation ofγPKC translocation along the dendrites of Purkinje cell inγPKC-GFP transgenic mice.
- Published in:
- Genes to Cells, 2004, v. 9, n. 10, p. 945, doi. 10.1111/j.1365-2443.2004.00779.x
- By:
- Publication type:
- Article
Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 9, p. 539, doi. 10.1038/jhg.2015.61
- By:
- Publication type:
- Article
SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 12, p. 846, doi. 10.1038/jhg.2011.115
- By:
- Publication type:
- Article
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype–phenotype correlation.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 3, p. 145, doi. 10.1038/jhg.2009.3
- By:
- Publication type:
- Article
Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype–phenotype correlation.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 6, p. 548, doi. 10.1007/s10038-006-0396-3
- By:
- Publication type:
- Article
Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 1, p. 60, doi. 10.1007/s100380050013
- By:
- Publication type:
- Article
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2172, doi. 10.1093/hmg/ddn116
- By:
- Publication type:
- Article
Production of Alkyl Aryl Sulfides from Aromatic Disulfides and Alkyl Carboxylates via a Disilathiane–Disulfide Interchange Reaction.
- Published in:
- Chemistry - An Asian Journal, 2021, v. 16, n. 24, p. 4103, doi. 10.1002/asia.202101101
- By:
- Publication type:
- Article
Palladium‐Catalyzed Reductive Coupling Reaction of Terminal Alkynes with Aryl Iodides Utilizing Hafnocene Difluoride as a Hafnium Hydride Precursor Leading to <italic>trans</italic>‐Alkenes.
- Published in:
- Chemistry - An Asian Journal, 2018, v. 13, n. 7, p. 809, doi. 10.1002/asia.201701775
- By:
- Publication type:
- Article
Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL.
- Published in:
- Genes, 2020, v. 11, n. 11, p. 1325, doi. 10.3390/genes11111325
- By:
- Publication type:
- Article
Cover Feature: Phosphine‐Catalyzed Acyl‐Group Exchange Reaction of Carboxylic Acids and an Aroyl Fluoride (Eur. J. Org. Chem. 46/2022).
- Published in:
- European Journal of Organic Chemistry, 2022, v. 2022, n. 46, p. 1, doi. 10.1002/ejoc.202201407
- By:
- Publication type:
- Article
Phosphine‐Catalyzed Acyl‐Group Exchange Reaction of Carboxylic Acids and an Aroyl Fluoride.
- Published in:
- European Journal of Organic Chemistry, 2022, v. 2022, n. 46, p. 1, doi. 10.1002/ejoc.202201118
- By:
- Publication type:
- Article
Uptake of Staphylococcus aureus by keratinocytes is reduced by interferon–fibronectin pathway and filaggrin expression.
- Published in:
- Journal of Dermatology, 2022, v. 49, n. 11, p. 1148, doi. 10.1111/1346-8138.16546
- By:
- Publication type:
- Article
Supporters' experiences of sensory characteristics of children with profound intellectual and multiple disabilities in after‐school daycare centres: A qualitative study.
- Published in:
- Nursing Open, 2023, v. 10, n. 12, p. 7826, doi. 10.1002/nop2.2031
- By:
- Publication type:
- Article
Synthesis of Two Types of 1,3‐Diarylpropane Derivatives by Cobalt‐Catalyzed Cycloaddition of 1,6‐Diynes.
- Published in:
- ChemistrySelect, 2023, v. 8, n. 31, p. 1, doi. 10.1002/slct.202302156
- By:
- Publication type:
- Article
Experiences of Patients and Families Living with Krabbe Disease.
- Published in:
- Journal of Patient Experience, 2025, p. 1, doi. 10.1177/23743735241309470
- By:
- Publication type:
- Article
Neglected visual function impairment associated with cornea verticillata due to Fabry disease.
- Published in:
- Internal Medicine Journal, 2017, v. 47, n. 8, p. 969, doi. 10.1111/imj.13501
- By:
- Publication type:
- Article
Guides for tetrahydrobiopterin‐responsive hyperphenylalaninemia.
- Published in:
- 2021
- By:
- Publication type:
- Editorial
Early juvenile Tay–Sachs disease with atypical symptoms.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
A critical role of conventional protein kinase C in morphological changes of rodent mast cells.
- Published in:
- Immunology & Cell Biology, 2011, v. 89, n. 1, p. 149, doi. 10.1038/icb.2010.67
- By:
- Publication type:
- Article