S
Saule Naureckiene
Researcher at University of Medicine and Dentistry of New Jersey
Publications - 2
Citations - 970
Saule Naureckiene is an academic researcher from University of Medicine and Dentistry of New Jersey. The author has contributed to research in topics: Genotype & Allele. The author has an hindex of 2, co-authored 2 publications receiving 909 citations. Previous affiliations of Saule Naureckiene include Center for Advanced Biotechnology and Medicine.
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Identification of HE1 as the Second Gene of Niemann-Pick C Disease
Saule Naureckiene,David E. Sleat,David E. Sleat,Henry Lackland,Anthony H. Fensom,Marie T. Vanier,Robert Wattiaux,Michel Jadot,Peter Lobel,Peter Lobel +9 more
TL;DR: Treatment of NP-C2 fibroblasts with exogenous recombinant HE1 protein ameliorated lysosomal accumulation of low density lipoprotein-derived cholesterol.
Journal ArticleDOI
Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group
Gilles Millat,Karim Chikh,Saule Naureckiene,David E. Sleat,Anthony H. Fensom,Katsumi Higaki,Milan Elleder,Peter Lobel,Marie T. Vanier +8 more
TL;DR: The first comprehensive study of eight unrelated families with NPC2, originating from France, Algeria, Italy, Germany, the Czech Republic, and Turkey, is reported, with a remarkable feature was the pronounced lung involvement, leading, in six patients, to early death caused by respiratory failure.