Leigh Syndrome with Nephropathy and CoQ10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations
نویسندگان
چکیده
منابع مشابه
Coenzyme Q10 supplementation rescues renal disease in Pdss2 mice with mutations in prenyl diphosphate synthase subunit 2
Ryoichi Saiki, Adam L. Lunceford, Yuchen Shi, Beth Marbois, Rhonda King, Justin Pachuski, Makoto Kawamukai, David L. Gasser, and Catherine F. Clarke Department of Chemistry and Biochemistry and the Molecular Biology Institute, University of California, Los Angeles, California; Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania; and Department of Li...
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We have obtained the structure of the bacterial diterpene synthase, tuberculosinol/iso-tuberculosinol synthase (Rv3378c) from Mycobacterium tuberculosis , a target for anti-infective therapies that block virulence factor formation. This phosphatase adopts the same fold as found in the Z- or cis-prenyltransferases. We also obtained structures containing the tuberculosinyl diphosphate substrate t...
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متن کاملLeigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings.
Mutations in the nuclear SURF1 gene are specifically associated with cytochrome c oxidase (COX)-deficient Leigh syndrome. MR imaging abnormalities in three children with this condition involved the subthalamic nuclei, medulla, inferior cerebellar peduncles, and substantia nigra in all cases. The dentate nuclei and central tegmental tracts were involved in two cases each (all instances), and the...
متن کاملMR findings in Leigh syndrome with COX deficiency and SURF-1 mutations.
BACKGROUND AND PURPOSE In a large number of patients with Leigh syndrome (LS) and cytochrome c oxidase (COX) deficiency, mutations of the SURF-1 gene were recently identified. The aim of the present study was to review the MR findings in patients with LS to verify if the genetically homogeneous patients with LS and SURF-1 mutations (LS SURF-1 patients) had a homogeneous MR pattern that could be...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2006
ISSN: 0002-9297
DOI: 10.1086/510023