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58 Possible Causes for activity, arginosuccinase

  • Argininosuccinic Aciduria

    Synonyms arginine succinate synthetase activity , argininosuccinate synthetase activity , argininosuccinic acid synthetase activity , arginosuccinate synthetase activity ,[yeastgenome.org] Target 435 Argininosuccinase; Argininosuccinate lyase; Arginosuccinase; ARLY_HUMAN; ASAL; ASL; EC 4.3.2.1.[biossusa.com] UniProt Protein Name Argininosuccinate lyase UniProt Synonym Protein Names Arginosuccinase UniProt Synonym Gene Names UniProt Entry Name ARLY_RAT UniProt Comments for ASL[mybiosource.com]

  • Urea Cycle Disorder

    We found residual activities 3% of ASL wild type (WT) in nine of 11 ASL mutations.[ncbi.nlm.nih.gov] These enzymes are ornithine transcarbamylase (OTC), argininosuccinic acid synthetase (ASD), arginase (AG), arginosuccinase acid lyase (ALD), carbamyl phosphate synthetase[wellness.com] We found that exon 2-deleted ASL forms a stable truncated protein with no relevant activity but a dose-dependent dominant negative effect on enzymatic activity after co-expression[ncbi.nlm.nih.gov]

  • Crandall Syndrome

    Symptoms may include progressive hearing loss, hair loss associated with short and brittle hairs (pili torti), and low functional activity of the gonads (hypogonadism) due[diseaseinfosearch.org] […] deficiency 207900 Arginosuccinase deficiency Argininosuccinic aciduria 207900 Bazex-Dupre-Christol syndrome Follicular atrophoderma and basal cell carcinoma syndrome, Bazex[keratin.com] If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child Active research is currently being performed to[dovemed.com]

  • Neuroectodermal Melanolysosomal Disease

    Immunologic abnormalities most often include impaired natural killer cell activity, absent delayed-type hypersensitivity and impaired responses to mitogens.[e-ijd.org] […] deficiency 207900 Arginosuccinase deficiency Argininosuccinic aciduria 207900 Bazex-Dupre-Christol syndrome Follicular atrophoderma and basal cell carcinoma syndrome, Bazex[keratin.com] The motor domain has ATPase activity and belongs to the larger group of P-loop NTPases.[ebi.ac.uk]

  • Pure Hair and Nail Ectodermal Dysplasia

    Expression studies in cultured cells revealed that the mutant HOXC13 protein mislocalized within the cytoplasm, and failed to upregulate the promoter activities of its target[ncbi.nlm.nih.gov] […] deficiency 207900 Arginosuccinase deficiency Argininosuccinic aciduria 207900 Bazex-Dupre-Christol syndrome Follicular atrophoderma and basal cell carcinoma syndrome, Bazex[keratin.com] , or for any activity that may harm another person or group (including, without limitation, by posting or linking to malicious content intended to damage or disrupt another[varsome.com]

  • Pure Hair-Nail Ectodermal Dysplasia

    By the results an intramolecular nucleophilic substitution (S N 2-type) reaction course is supported that leads to concomitant donor and acceptor activation by the catalyst[authormapper.com] […] deficiency 207900 Arginosuccinase deficiency Argininosuccinic aciduria 207900 Bazex-Dupre-Christol syndrome Follicular atrophoderma and basal cell carcinoma syndrome, Bazex[keratin.com] , or for any activity that may harm another person or group (including, without limitation, by posting or linking to malicious content intended to damage or disrupt another[varsome.com]

  • Ringed Hair Disease

    At the end of the active growth of the anagen phase, activity of the matrix ceases, and the hair moves into the catagen stage.[what-when-how.com] […] deficiency 207900 Arginosuccinase deficiency Argininosuccinic aciduria 207900 Bazex-Dupre-Christol syndrome Follicular atrophoderma and basal cell carcinoma syndrome, Bazex[keratin.com] The "Terms of Use" hereby is published in the website with the last change on March 30 th 2014 and the " SITE " is activated by enabling the access to everyone.[turkiyeklinikleri.com]

  • Trichodysplasia - Xeroderma Syndrome

    Measurement of enzyme activities, and important co-factors, and culturing of cells from single follicles all became possible.[books.google.de] […] deficiency 207900 Arginosuccinase deficiency Argininosuccinic aciduria 207900 Bazex-Dupre-Christol syndrome Follicular atrophoderma and basal cell carcinoma syndrome, Bazex[keratin.com] Bakkenist , Inhibition of ATM kinase activity does not phenocopy ATM protein disruption, Cell Cycle , 2010 , 9 , 20, 4052 CrossRef 7 Andrea B. Maier , Rudi G.J.[onlinelibrary.wiley.com]

  • Acrofacial Dysostosis Type Palagonia

    Studies of the BBB as an enzymatic barrier were extended greatly in the 1980s, as a transporter of regulatory proteins in the 1990s, and as a secretor of immune-active substances[sarcomacancer.org] […] deficiency 207900 Arginosuccinase deficiency Argininosuccinic aciduria 207900 Bazex-Dupre-Christol syndrome Follicular atrophoderma and basal cell carcinoma syndrome, Bazex[keratin.com] Anderson-Fabry disease ( AFD ) is an X-linked disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. ...[nactem.ac.uk]

  • Pyruvate Carboxylase Deficiency

    METHODS AND RESULTS: Enzyme analysis of cultured skin fibroblasts revealed 2-5% of normal pyruvate carboxylase activity.[ncbi.nlm.nih.gov] Many Acidosis, gluconeogenesis X ----ketoglutarate X X X Many ---malate X X X ---aspartate X X X ---glutamate X X X AMINO ACID DISORDERS Hyperlysinemia ---*lysine X X X Arginosuccinase[biochemweb.slu.edu] Data from an assay for pyruvate carboxylase activity in the patient's fibroblasts show that the activity observed is significant but very close to the lower limits of the[ncbi.nlm.nih.gov]

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