Výsledky vyhledávání - "Braverman Nancy E"

Akademický článek

A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population

Autor: Levesque Sebastien, Morin Charles, Guay Simon-Pierre, Villeneuve Josee, Marquis Pascale, Yik Wing, Jiralerspong Sarn, Bouchard Luigi, Steinberg Steven, Hacia Joseph G, Dewar Ken, Braverman Nancy E

Publikováno v: BMC Medical Genetics, Vol 13, Iss 1, p 72 (2012)

Abstract Background Zellweger syndrome (ZS) is a peroxisome biogenesis disorder due to mutations in any one of 13 PEX genes. Increased incidence of ZS has been suspected in French-Canadians of the Saguenay-Lac-St-Jean region (SLSJ) of Quebec, but thi

Externí odkaz: https://doaj.org/article/90ff9368a2e7439d84b06c7b396e7123

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Akademický článek

In vitro and in vivo plasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor

Autor: Wood Paul L, Khan M Amin, Smith Tara, Ehrmantraut Greg, Jin Wei, Cui Wei, Braverman Nancy E, Goodenowe Dayan B

Publikováno v: Lipids in Health and Disease, Vol 10, Iss 1, p 182 (2011)

Abstract Background Childhood peroxisomal disorders and leukodystrophies are devastating diseases characterized by dysfunctional lipid metabolism. Plasmalogens (ether glycerophosphoethanolamine lipids) are decreased in these genetic disorders. The bi

Externí odkaz: https://doaj.org/article/0795c681f2454defbf69007ad6a0efee

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