Literature DB >> 14107447

HOMOCYSTINURIA: AN ENZYMATIC DEFECT.

S H MUDD, J D FINKELSTEIN, F IRREVERRE, L LASTER.   

Abstract

A deficiency, or absence, of cystathionine synthetase activity has been demonstrated in liver obtained from a mentally retarded child with homocystinuria.

Entities:  

Keywords:  AMINO ACIDS; BLOOD PROTEIN DISORDERS; CARBON ISOTOPES; CHILD; CYSTIC FIBROSIS; CYSTINURIA; FATTY LIVER; HYPOPROTEINEMIA; LIGASES; LIVER ENZYMOLOGY; MENTAL RETARDATION; METHIONINE; PANCREATIC NEOPLASMS; PROTEIN METABOLISM; PSORIASIS

Mesh：

Substances：

Year:  1964        PMID： 14107447     DOI： 10.1126/science.143.3613.1443

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  95 in total

Review 1.  The localization and interactions of huntingtin.

Authors:  A L Jones
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  1999-06-29       Impact factor: 6.237

2.  Enzyme studies in cystathione-beta-synthase deficiency: a possible effect of elevated intracellular levels of homocystine in kinetic studies.

Authors:  F Hemraj; R Griffiths
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

3.  Lens fringe in homocystinuria.

Authors:  M S Ramsey; D H Dickson
Journal:  Br J Ophthalmol       Date:  1975-06       Impact factor: 4.638

Review 4.  Homocyst(e)ine and coronary heart disease: pharmacoeconomic support for interventions to lower hyperhomocyst(e)inaemia.

Authors:  Brahmajee K Nallamothu; A Mark Fendrick; Gilbert S Omenn
Journal:  Pharmacoeconomics       Date:  2002       Impact factor: 4.981

Review 5.  Hyperhomocysteinaemia and associated disease.

Authors:  R C Bakker; D P Brandjes
Journal:  Pharm World Sci       Date:  1997-06

6.  Increase in cystathionine beta-synthase activity in the liver of rats treated with L-ethionine.

Authors:  D Koraćević
Journal:  Experientia       Date:  1975-01-15

7.  In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies.

Authors:  Hesham M Ismail; Navaneethakrishnan Krishnamoorthy; Nader Al-Dewik; Hatem Zayed; Nura A Mohamed; Valeria Di Giacomo; Sapna Gupta; Johannes Häberle; Beat Thöny; Henk J Blom; Waren D Kruger; Tawfeg Ben-Omran; Gheyath K Nasrallah
Journal:  Hum Mutat       Date:  2018-11-23       Impact factor: 4.878

8.  The nutrigenetics of hyperhomocysteinemia: quantitative proteomics reveals differences in the methionine cycle enzymes of gene-induced versus diet-induced hyperhomocysteinemia.

Authors:  Patricia M DiBello; Sanjana Dayal; Suma Kaveti; Dongmei Zhang; Michael Kinter; Steven R Lentz; Donald W Jacobsen
Journal:  Mol Cell Proteomics       Date:  2009-12-14       Impact factor: 5.911

9.  The effects of chronic isoniazid intoxication on motor end plate sprouting in rat sternocostalis muscle and on responses to partial denervation and local botulinum toxin.

Authors:  S Kemplay; J B Cavanagh
Journal:  Acta Neuropathol       Date:  1984       Impact factor: 17.088

10.  Cystathionine in rat brain: catabolism in vivo.

Authors:  J M Lefauconnier; C Portemer; F Chatagner
Journal:  Neurochem Res       Date:  1978-06       Impact factor: 3.996
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