Autor: "Millington, David" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.
Autorzy:: Dessein AF; Department of Biochemistry and Molecular Biology, Laboratory of Hormonology, Metabolism-Nutrition & Oncology, Center of Biology and Pathology Pierre-Marie Degand, CHRU Lille, 59037 Lille, France.
Fontaine M
Andresen BS
Gregersen N
Brivet M
Rabier D
Napuri-Gouel S
Dobbelaere D
Mention-Mulliez K
Martin-Ponthieu A
Briand G
Millington DS
Vianey-Saban C
Wanders RJ
Vamecq J; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2010 Oct 05; Vol. 5, pp. 26. Date of Electronic Publication: 2010 Oct 05.
Typ publikacji:: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Mutation*
Acyl-CoA Dehydrogenase/*deficiency
Acyl-CoA Dehydrogenase/*genetics
Deficiency Diseases/*genetics
Adult ; Carnitine/blood ; Cells, Cultured ; Child, Preschool ; Deficiency Diseases/diagnosis ; Deficiency Diseases/physiopathology ; Fatty Acids/metabolism ; Female ; Fibroblasts/cytology ; Fibroblasts/metabolism ; Genetic Predisposition to Disease ; Humans ; Lymphocytes/cytology ; Lymphocytes/metabolism ; Male ; Oxidation-Reduction ; Pedigree ; Polymerase Chain Reaction ; Skin/cytology

Czasopismo naukowe

Skocz do pozycji: 2.

Tytuł:: Hepatic expression of malonyl-CoA decarboxylase reverses muscle, liver and whole-animal insulin resistance.
Autorzy:: An J; Sarah W. Stedman Nutrition and Metabolism Center and Department of Pharmacology & Cancer Biology, Duke University Medical Center, Durham, North Carolina 27710, USA.
Muoio DM
Shiota M
Fujimoto Y
Cline GW
Shulman GI
Koves TR
Stevens R
Millington D
Newgard CB; Pokaż więcej
Źródło:: Nature medicine [Nat Med] 2004 Mar; Vol. 10 (3), pp. 268-74. Date of Electronic Publication: 2004 Feb 08.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
MeSH Terms:: Lipid Metabolism*
Carboxy-Lyases/*metabolism
Carnitine/*analogs & derivatives
Insulin Resistance/*physiology
Liver/*metabolism
Muscle, Skeletal/*metabolism
Acyl Coenzyme A/metabolism ; Adenoviridae/genetics ; Adenoviridae/metabolism ; Animals ; Carboxy-Lyases/genetics ; Carnitine/chemistry ; Carnitine/metabolism ; Cells, Cultured ; Dietary Fats ; Hepatocytes/cytology ; Hepatocytes/metabolism ; Insulin/metabolism ; Liver/cytology ; Male ; Rats ; Rats, Wistar ; Triglycerides/metabolism

Czasopismo naukowe

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