NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24

M. Hunter; D. Angelicheva; I. Tournev; E. Ingley; D.C. Chan; G.F. Watts; I. Kremensky; L. Kalaydjieva

doi:10.1016/j.bbrc.2005.05.050

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NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24

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NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24

M. Hunter, D. Angelicheva, I. Tournev, E. Ingley, D.C. Chan, G.F. Watts, I. Kremensky and L. Kalaydjieva

Biochemical and Biophysical Research Communications, Vol.332(4), pp.982-992

2005

DOI: https://doi.org/10.1016/j.bbrc.2005.05.050

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Abstract

Hereditary Motor and Sensory Neuropathy Lom (HMSNL) is a severe autosomal recessive peripheral neuropathy, the most common form of demyelinating Charcot-Marie-Tooth (CMT) disease in the Roma (Gypsy) population. The mutated gene, N-myc downstream-regulated gene 1 (NDRG1), is widely expressed and has been implicated in a range of processes and pathways. To gain an insight into NDRG1 function we performed yeast two-hybrid screening and identified interacting proteins whose known functions suggest involvement in cellular trafficking. Further analyses, focusing on apolipoproteins A-I and A-II, confirmed their interaction with NDRG1 in mammalian cells and suggest a defect in Schwann cell lipid trafficking as a major pathogenetic mechanism in HMSNL. At the same time, the chromosomal location of NDRG1 coincides with a reported HDL-C QTL in humans and in mice. A putative role of NDRG1 in the general mechanisms of HDL-mediated cholesterol transport was supported by biochemical studies of blood lipids, which revealed an association between the Gypsy founder mutation, R148X, and decreased HDL-C levels.

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Title: NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24
Authors/Creators: M. Hunter (Author/Creator) - The University of Western Australia
D. Angelicheva (Author/Creator) - UWA Centre for Medical Research
I. Tournev (Author/Creator) - Medical University of Sofia
E. Ingley (Author/Creator) - The University of Western Australia
D.C. Chan (Author/Creator) - The University of Western Australia
G.F. Watts (Author/Creator) - The University of Western Australia
I. Kremensky (Author/Creator) - Medical University of Sofia
L. Kalaydjieva (Author/Creator) - UWA Centre for Medical Research
Publication Details: Biochemical and Biophysical Research Communications, Vol.332(4), pp.982-992
Publisher: Academic Press
Identifiers: 991005541272207891
Copyright: © 2005 Elsevier Inc.
Murdoch Affiliation: Murdoch University
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.253 Nerve Disorders; 1.253.1972 Charcot-Marie-Tooth Disease
Web Of Science research areas: Biochemistry & Molecular Biology; Biophysics
ESI research areas: Biology & Biochemistry