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6,326 Possible Causes for 7,, A1, Aldehyde, dehydrogenase, family, member, mouse, protein

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  • Spinocerebellar Ataxia Type 1

    […] dehydrogenase complex,subunit A (SDHA), ATP synthase subunit d, mitochondrial (ATP5H)] and oxidative stress [peroxiredoxin-6 (PRDX6), aldehyde dehydrogenase family 1, subfamily A1[ncbi.nlm.nih.gov] In this study, we characterized astrocytic and microglial response in SCA1 using a comprehensive array of mouse models.[ncbi.nlm.nih.gov] PubMed CrossRef Google Scholar 7. Dejerine JJ, Thomas A. L’atrophie olivo-ponto-cérébelleuse.[doi.org] Here we show that the expanded polyglutamine tract differentially affects the function of the host protein in the context of different endogenous protein complexes.[ncbi.nlm.nih.gov] Three presymptomatic members of an Italian SCA1 family underwent molecular analysis and showed the SCA1 mutation. They were defined as "at risk/mutated" individuals.[ncbi.nlm.nih.gov] […] in this family is ascribable to SCA1 pathology but not to CNS amyloidosis.[ncbi.nlm.nih.gov] 120270 ) Berardinelli-Seip congenitale generalisierte Lipodystrophie Typ 2 269700 ( BSCL2 606158 ) Bikuspide Aortenklappe, kongenital ( GATA5 611496 ) Brachydaktylie Typ A1[medizinische-genetik-dresden.de] Therefore, the neurochemicals that correlate with clinical status in patients reflected progressive pathology in the mouse model.[ncbi.nlm.nih.gov]

  • Xanthinuria

    Just as in A1 receptors, this serves as a protective mechanism.[wikivisually.com] […] all possible variations for your translation, Voice Recognition for dictation capabilities and Voice Commands that allow you to call out the tasks you need without using mouse[wordmagicsoft.com] Urolithiasis. 2015 Feb;43(1):61-7. doi: 10.1007/s00240-014-0734-4. Epub 2014 Nov 6.[ncbi.nlm.nih.gov] Abstract The presence of immunoreactive xanthine oxidase protein was proven in a xanthinuric patient, using a polyclonal antibody against xanthine oxidase.[ncbi.nlm.nih.gov] Abstract Two brothers with hereditary xanthinuria (xanthine oxidase deficiency) and several members of their family were studied.[ncbi.nlm.nih.gov] […] lack aldehyde oxidase activity.[emedicine.com] The duodenal mucosa from the subject had no xanthine dehydrogenase protein while the mRNA level was not reduced.[doi.org] Abstract We have carried out biochemical and clinical studies on a large family in which xanthinuria, xanthine lithiasis, uric acid lithiasis and/or gout were discovered.[ncbi.nlm.nih.gov]

  • Influenza

    HLA-A1 and HLA-A3 T cell epitopes derived from influenza virus proteins predicted from peptide binding motifs. J Immunol 151 : 5930 –5.[dx.doi.org] Compound 2 shows strong potency versus multiple influenza A strains, including pandemic 2009 H1N1 and avian H5N1 flu strains, and shows an efficacy profile in a mouse influenza[doi.org] Its overall amino acid sequence shows approximately 50% homology to that of ICV ( 7 ).[doi.org] Influenza virus M2 protein is an integral membrane protein expressed on the infected-cell surface. Cell 40 , 627–633 (1985). 5. Zebedee, S.L. & Lamb, R.A.[dx.doi.org] In communicating with Member States, EISN utilises National Focal Points, who are responsible for overseeing interactions between ECDC and individual Member States regarding[ecdc.europa.eu] Infectivity of the virion is easily inactivated by all alcoholic disinfectants, chlorine, aldehydes and temperature above 70 C. Sources www.gov.uk/...[news-medical.net] […] lymphopenia, elevated amino-transaminases, thrombocytopenia, prolonged prothrombin time and activated partial thromboplastin time, increased D-Dimer, increased serum lactate dehydrogenase[ncbi.nlm.nih.gov] The classification of the new virus in a separate genus of the Orthomyxoviridae family is proposed.[doi.org]

  • Spinal Muscular Atrophy

    This mutation creates a putative high-affinity binding site for the splicing repressor protein hnRNP A1 overlapping the splice acceptor site of exon 7 (UAG GGU).[ncbi.nlm.nih.gov] mouse spinal cords (Figure 7 D).[doi.org] We identified a tetracycline-like compound, PTK-SMA1, which stimulates exon 7 splicing and increases SMN protein levels in vitro and in vivo in mice.[dx.doi.org] Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells C Angelozzi , F Borgo , F D Tiziano , A Martella , G Neri , C Brahe Istituto di Genetica[doi.org] Further investigations revealed that he and his family members had cardiac diseases including atrioventricular block.[ncbi.nlm.nih.gov] In addition, cell lysis buffer was supplemented with 2.5 μM ubiquitin aldehyde to inhibit deubiquitinating enzymes.[doi.org] , long-chain L-3-hydroxyacyl-CoA dehydrogenase, acetoacetyl-CoA thiolase, and 3-ketoacyl-CoA thiolase were found; however, normal crotonase activity was documented.[ncbi.nlm.nih.gov] We have previously reported data on attitudes toward pre-conception and prenatal genetic screening for SMA among affected families (adults with SMA [n   82] and family members[ncbi.nlm.nih.gov]

  • Short Chain Acyl CoA Dehydrogenase Deficiency

    […] proteins were found significantly regulated in both patient groups: adenylate kinase 4 (AK4), nucleoside diphosphate kinase A (NME1) and aldehyde dehydrogenase family 4 member A1[ncbi.nlm.nih.gov] This mouse model has been thoroughly characterized and is readily available from the Jackson Laboratory.[ncbi.nlm.nih.gov] Epub 2003 May 7. Nagan N, Kruckeberg KE, Tauscher AL, Bailey KS, Rinaldo P, Matern D.[ghr.nlm.nih.gov] None of the family members had hypotonia, developmental delay, or episodes of ketotic hypoglycemia.[ncbi.nlm.nih.gov] Short chain acyl CoA dehydrogenase deficiency is a rare genetic disorder that causes impaired utilization of energy from fat through fatty acid oxidation.[symptoma.com] View Full Text AAN Members: Sign in with your AAN member credentials (e-mail or 6-digit Member ID number) Non-AAN Member subscribers: Sign in with subscriber credentials Log[neurology.org] Another mouse study from 2012 found that ACADS deficient mice on a high-fat diet had a state of energy deficiency in the brain.[geneticlifehacks.com] None of the family members had hypotonia, developmental delay, or episodes of ketotic hypoglycemia. Conclusion.[pediatrics.aappublications.org]

  • Osteoporosis

    Cancer -- Part 14: Poisoning, Drug Overdose, and Envenomation -- Chapter 449: Heavy Metal Poisoning -- Chapter 450: Poisoning and Drug Overdose -- Part 23: Atlases -- Chapter A1[worldcat.org] Black bear parathyroid hormone has been previously reported to enhance bone mass in the dystrophin-deficient mouse.[ncbi.nlm.nih.gov] CASE PRESENTATION: A 7-year-old Asian Balinese boy presented with back pain. His anteroposterior pelvic radiograph showed osteoporotic bone.[ncbi.nlm.nih.gov] A similar increase in risk was observed for animal protein, but no association was found for consumption of vegetable protein.[doi.org] The full article is accessible to AMA members and paid subscribers. If you are an AMA member or have a subscription login to read more or purchase a subscription now.[doi.org] IFNA8, IFNA13, IFNA14, IFNA16, IFNA17, IFNA21 , Interferon α proteins [ 36 ] PIK3C3 Phosphatidylinositol 3-kinase catalytic subunit type 3 [ 36 ] Other pathways ALDH7A1 Aldehyde[doi.org] Thiazolidinediones but not metformin directly inhibit the steroidogenic enzymes P450c17 and 3β-hydroxy-steroid dehydrogenase . J Biol Chem 2001 ; 276: 16767 – 71 .[doi.org] We identified a family with novel WNT1 mutation. The index case, a 6 month old child presented with fractures from early infancy.[ncbi.nlm.nih.gov]

  • Huntington's Disease

    The A1 and A2A adenosine receptors (A1R and A2AR) are major targets of caffeine and have been extensively investigated.[ncbi.nlm.nih.gov] N171-82Q mouse ( right ) displays normal body weight and appearance.[ncbi.nlm.nih.gov] Chao MJ 1, 2 , Kim KH 1, 2 , Shin JW 1, 2 , Lucente D 1, 2 , Wheeler VC 1, 2 , Li H 3 , Roach JC 3 , Hood L 3 , Wexler NS 4 , Jardim LB 5, 6 , Holmans P 7 , Jones L 7 , Orth[ncbi.nlm.nih.gov] Analysis of protein-protein interactions (PPIs) is a valuable approach for characterizing proteins of unknown function.[ncbi.nlm.nih.gov] However, on average, family members rated Communication as more disrupted than their HD affected family member.[ncbi.nlm.nih.gov] RLS are defined as the oxidized lipid products including aldehydes such as HNE, malondialdehyde and acrolein as well as the A- and J- series isoprostanes etc.[doi.org] […] kinase 1 (PDK1), monocarboxylate lactate transporter 1 (MCT-1), lactate dehydrogenase kinase-A (LDH-A), and inactivation of pyruvate dehydrogenase complex (PDH).[ncbi.nlm.nih.gov] Since April 2000 the mission of the HDLighthouse Families Web site is to present and explain the latest research findings so that families afflicted by Huntington's disease[hdlf.org]

  • Lafora Disease

    […] phosphatidylinositol-3,4-diphosphate US4361549A ( en ) 1982-11-30 Complement-fixing monoclonal antibody to human T cells, and methods of preparing same Knapp et al. 1982 VIL-A1[patents.google.com] Glycogen metabolizing enzymes were analyzed in a transgenic mouse over-expressing a dominant negative form of laforin that accumulates Lafora bodies in several tissues.[ncbi.nlm.nih.gov] CNS Drugs. 2010 Jul;24(7):549-61. doi: 10.2165/11319250-000000000-00000.[ncbi.nlm.nih.gov] Binary interactions i GO - Molecular function i identical protein binding Protein-protein interaction databases Structure i 3D structure databases Family & Domains i Phylogenomic[expasy.org] Four members of a family with known consanguinity presented as teenagers with seizures, myoclonus, dementia, and ataxia.[ncbi.nlm.nih.gov] The reaction of periodic acid selectively oxidizes glucose residues which creates aldehydes that react with the Schiff reagent, which creates a purple color.[wiki.med.umich.edu] Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory[expasy.org] Abstract We studied a Malian family with parental consanguinity and two of eight siblings affected with late-childhood-onset progressive myoclonus epilepsy and cognitive decline[ncbi.nlm.nih.gov]

  • Neuronal Ceroid Lipofuscinosis

    London, UK. 14-15 November 1997 Oganised by Dr Sara Mole Proceedings published in Eur J Paed Neurol. 2: A1-A17. 1998. 1998 The Seventh International Congress on the Neuronal[ucl.ac.uk] Thus, the novel approximately 36-kD CLN6-gene product augments an intriguing set of unrelated membrane-spanning proteins, whose deficiency causes NCL in mouse and man.[ncbi.nlm.nih.gov] Direct sequencing of the exon 7 in both parents showed the same substitution in heterozygous form.[ncbi.nlm.nih.gov] To gain insight into the function of CLN8 protein, we employed the split-ubiquitin membrane-based yeast two-hybrid (MYTH) system, which detects protein-protein interactions[ncbi.nlm.nih.gov] View Full Text AAN Members: Sign in with your AAN member credentials (e-mail or 6-digit Member ID number) Non-AAN Member subscribers: Sign in with subscriber credentials Log[neurology.org] .: Aldehyde-fuchsin: a new stain for elastic tissue. Am. J. clin. Pathol. 20 , 665–666 (1950) PubMed Google Scholar Gordon, N. S., Marsden, H. B., Noronha, M.[link.springer.com] […] deficiency long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Mayer-Rokitansky-Küster-Hauser syndrome May 2, 2017 familial dilated cardiomyopathy hereditary sensory and[elbiruniblogspotcom.blogspot.com] This is the first published report of a genetic study in a Moroccan family with NCL.[ncbi.nlm.nih.gov]

  • Hereditary Spastic Paraplegia

    Exome sequencing identified a homozygous stop gain mutation (pR287X) in the phospholipase A1 gene DDHD2, in the affected individuals, resulting in a premature stop codon and[ncbi.nlm.nih.gov] The function of the protein has been studied in the rumpshaker mouse, which is a model of SPG2/PMD.[ncbi.nlm.nih.gov] Clinical Correlations: Spastic paraplegia 7 may have its onset in the second decade of life but sometimes much later.[disorders.eyes.arizona.edu] In one series of experiments, they will create a number of mutant atlastin proteins, each with a defect designed to make the protein malfunction in a specific way.[news.rice.edu] Finally, we obtained the central nervous system of one of the afflicted members of the Ze family for pathologic study.[dx.doi.org] The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.[ncbi.nlm.nih.gov] Occasionally these concentrations may be low and the diagnosis can be confirmed by measuring activity of the enzyme glutaryl CoA dehydrogenase in cultured fibroblasts.[adc.bmj.com] DNA sequencing showed that he, along with other family members (n 5; mean LDL cholesterol 0.8 mmol/L, apoB 0.31 g/L), were heterozygous for a single nucleotide deletion in[ncbi.nlm.nih.gov]

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