A5101929066- Genetic Neurodegenerative Diseases
- Hereditary Neurological Disorders
- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Amino Acid Enzymes and Metabolism
- Neurological diseases and metabolism
- Parkinson's Disease Mechanisms and Treatments
- Cancer, Hypoxia, and Metabolism
- Peroxisome Proliferator-Activated Receptors
- Neurogenetic and Muscular Disorders Research
- Ubiquitin and proteasome pathways
- Neurological disorders and treatments
- Prion Diseases and Protein Misfolding
- S100 Proteins and Annexins
- Glycogen Storage Diseases and Myoclonus
- Multiple Sclerosis Research Studies
- Advanced Glycation End Products research
- Peripheral Neuropathies and Disorders
- Cellular transport and secretion
- Genetics and Neurodevelopmental Disorders
- Neuroscience and Neuropharmacology Research
- Genomics and Rare Diseases
- Eicosanoids and Hypertension Pharmacology
- Sarcoidosis and Beryllium Toxicity Research
- Infectious Diseases and Tuberculosis
Ehime University
2020-2024
Kurume University
2009-2021
Kyushu University
2006-2021
Duke Medical Center
2013
Independent Administrative Institution National Research Institute for Cultural Properties
2009
Yokohama City University
2009
Karolinska Institutet
2005
Shimane University
2003
Keio University
1998
University of Maryland, Baltimore
1996
We have previously mapped autosomal dominant spinocerebellar ataxia (SCA) 16 to 3p26, overlapping with the locus of SCA15. Recently, partial deletions ITPR1 and neighbouring SUMF1 in SCA15 two additional families were reported. In present study we determined copy number these genes by real time quantitative polymerase chain reaction (PCR) found a heterozygous deletion exons 1-48 ITPR1, but not SCA16. Breakpoint analysis revealed that size is 313,318 bp telomeric breakpoint located middle...
Three peroxisomal enzymes of &oxidation from rat liver were synthesized in a cell-free protein-synthesizing system derived lysate rabbit reticulocytes.The vitro products acyl-CoA oxidase (EC 1.3.99.3) and bifunctional protein containing enoyl-CoA hydratase 4.2.1.17)and 3-hydroxyacyl-CoA dehydrogenase 1.1.1.35)activities apparently the same size charge as subunit respective mature enzymes; that 3-ketoacyl-CoA thiolase 2.3.1.16)was about 3,000 Da larger more basic than its subunit.The free...
The minimal sequence requirement for a peroxisome-targeting signal was investigated using an in vitro import system. Carboxyl-terminal sequences Ser-Lys-Leu (SKL) and Leu-Gln-Ser-Lys-Leu (LQSKL) of acyl-CoA oxidase (AOX) directed to peroxisomes the fused proteins with import-incompetent forms AOX catalase that had been truncated, implying SKL tripeptide functions as targeting signal. Elimination entire or deletion any 1 2 amino acids abolished activity AOX. Substitution alanine serine did...
To identify the topogenic signal of peroxisomal acyl-coenzyme A oxidase (AOX) rat liver, we carried out in vitro import experiments with mutant polypeptides enzyme. Full-length AOX and that were truncated at N-terminal region efficiently imported into peroxisomes, as determined by resistance to externally added proteinase K. Polypeptides carrying internal deletions C-terminal exhibited much lower activities. or mutated extreme C terminus totally negative. When five amino acid residues...
Multiple genes have been associated with primary open angle glaucoma (POAG) in Caucasian populations. We now examine the association of these loci populations African ancestry, at particularly high risk for POAG.
Exfoliation syndrome (XFS) is a common, age-related, systemic fibrillinopathy. It greatly increases risk of exfoliation glaucoma (XFG), major worldwide cause irreversible blindness. Coding variants in the lysyl oxidase-like 1 (LOXL1) gene are strongly associated with XFS all studied populations, but functional role for these has not been established. To identify additional candidate variants, we sequenced entire LOXL1 genomic locus (∼40 kb) 50 indigenous, black South African cases and...
The amino-terminal presequences of rat peroxisomal 3-ketoacyl-CoA thiolase precursors (types A and B) were reported to be cleavable signal peptides for protein translocation. In the present study, this was proven by immunoelectron microscopy cultured Chinese hamster ovary cells stably expressing fusion proteins sequences precursor Escherichia coli dihydrofolate reductase. processed into mature forms apparently correct sizes. Site-directed mutagenesis studies charged residues in B-type...
The mesogloea collagen of a primitive animal, the jellyfish Stomolophus nomurai, belonging to class Scyphozoa in Coelenterata, was studied with respect its chain structure.Most solubilized by limited digestion pepsin and isolated selective precipitation at 0.9 M NaCl 0.5 acetic acid.Upon denaturation, pepsinsolubilized produced three distinct chains, al, a2, a3, comparable amounts which were separable CM-cellulose chromatography.The nonidentity these chains confirmed amino acid carbohydrate...
The precursor of rat liver ornithine carbamoyltransferase (EC 2.1.3.3) synthesized in vitro was taken up and processed to the mature enzyme by isolated mitochondria. Potassium ion, magnesium a reticulocyte cytosolic protein(s), addition mitochondria, were required for maximal transport processing precursor. concentrations potassium ions about 120 0.8-1.6 mM, respectively. Dialyzed postribosomal supernatant rabbit lysate (36 mg protein/ml), combination with ions, stimulated severalfold....
Total RNA of rat liver was translated in a cell-free system derived from rabbit reticulocytes, and synthesized precursor forms carbamyl phosphate synthetase I (EC 6.3.4.16) ornithine transcarbamylase 2.1.3.2) were isolated by immunoprecipitation sodium dodecyl sulfate-polyacrylamide gel electrophoresis.Synthesis both enzyme precursors optimal with 90 to 180 m M potassium ion, 1.2 magnesium, 50 pg/ml tRNA.Enzyme synthesis increased total up mg/ml time min at 25 "C.Translatable levels hepatic...
Messenger RNA of rat ornithine carbamoyltransferase (EC 2.1.3.3), a mitochondrial matrix enzyme, was enriched by immunoprecipitation liver free polysomes, and recombinant plasmids were prepared from the mRNA vector-primer method. The cDNA clones for identified hybrid-arrested translation hybrid-selected translation. One clones, designated pOTC-1, contained 1.6-kilobase insert hybridized to approximately equal 1.8 kilobases in liver. clone subjected nucleotide sequence analysis. deduced amino...
The precursor of rat liver ornithine transcarbamylase (ornithine carbamoyltransferase; carbamoylphosphate:L-ornithine carbamoyltransferase, EC 2.1.3.3) (pre-ornithine transcarbamylase), which was synthesized in a reticulocyte lysate cell-free system, converted to an apparently mature form the enzyme by isolated mitochondria. proteolytic processing involved two steps: (i) conversion pre-ornithine (39,400 daltons) product about 37,000 daltons and (ii) further (36,00 daltons). When mitochondria...
The precursor for rat liver ornithine transcarbamylase (EC 2.1.3.3)synthesized in vitro was converted to an apparently mature form of the enzyme by isolated mitochondria.The processed product recovered sedimented mitochondria and not extracted from with 1 M KC1.The could be digitonin.The concentration digitonin required higher than that intermembrane space enzyme, adenylate kinase 2.7.4.3), but lower endogenous transcarbamylase, which is localized matrix space.The on a sucrose gradient SZO+...
Rat mitochondrial ornithine carbamoyltransferase (EC 2.1.3.3) is encoded by a gene located on the X chromosome and expressed specifically in liver small intestine; we have cloned this determined its structure. The 75 kilobases long split into 10 exons. introns range length from 85 bases to 26 kilobases. sum of total exons 1.5 occupies only 2% gene; value being one lowest among genes heretofore reported. first exon encodes most NH2-terminal presequence that functions as targeting signal....
To identify of the gene responsible for onset spinocerebellar ataxia type 16 (SCA16).We reanalyzed linkage original Japanese pedigree using updated information, including three additional subjects. We then screened all exons located in critical region.We reassigned locus SCA16 to 3p26.2-pter (maximum logarithm-of-odds score = 5.177) and identified only one point mutation (4,256C-->T) 3' untranslated region contactin 4 (CNTN4) on chromosome 3p26.2-26.3, which cosegregated with disease. This...
During a survey of the mycobiota in stone chamber Takamatsu-zuka tumulus village Asuka, Nara Prefecture, Japan, we isolated 19 yeast strains assigned to genus Candida from various samples, taken mainly mouldy spots where colour murals had changed black, white or another tone, and viscous gels (biofilms) on plaster walls. The 26S rDNA D1/D2 domain sequence-based phylogeny clearly indicates two groups isolates. Polyphasic characterization, including morphological, physiological chemotaxonomic...