scholarly journals A Non-classical Presentation of Tangier Disease with Three ABCA1 Mutations

2011 ◽  
pp. 109-111 ◽  
Author(s):  
Muhammad Ali Pervaiz ◽  
Gerald Gau ◽  
Allan S. Jaffe ◽  
Amy K. Saenger ◽  
Linnea Baudhuin ◽  
...  
Keyword(s):  
Tangier Disease

scholarly journals Novel mutations in the gene encoding ATP-binding cassette 1 in four Tangier disease kindreds

2000 ◽  
Vol 41 (3) ◽  
pp. 433-441
Author(s):  
Margaret E. Brousseau ◽  
Ernst J. Schaefer ◽  
Josee Dupuis ◽  
Brenda Eustace ◽  
Paul Van Eerdewegh ◽  
...  
Keyword(s):  
Atp Binding ◽  
Tangier Disease ◽  
Novel Mutations ◽  
Gene Encoding ◽  
Atp Binding Cassette

scholarly journals Plasma and fibroblasts of Tangier disease patients are disturbed in transferring phospholipids onto apolipoprotein A-I

1998 ◽  
Vol 39 (5) ◽  
pp. 987-998 ◽  
Author(s):  
Arnold von Eckardstein ◽  
Ali Chirazi ◽  
Susanne Schuler-Lüttmann ◽  
Michael Walter ◽  
John J.P. Kastelein ◽  
...  
Keyword(s):  
Tangier Disease ◽  
Apolipoprotein A

scholarly journals Cellular cholesterol efflux is modulated by phospholipid-derived signaling molecules in familial HDL deficiency/Tangier disease fibroblasts

2001 ◽  
Vol 42 (2) ◽  
pp. 249-257 ◽  
Author(s):  
Bassam Haidar ◽  
Stephanie Mott ◽  
Betsie Boucher ◽  
Ching Yin Lee ◽  
Michel Marcil ◽  
...  
Keyword(s):  
Cholesterol Efflux ◽  
Signaling Molecules ◽  
Tangier Disease ◽  
Cellular Cholesterol ◽  
Cellular Cholesterol Efflux

Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy

2015 ◽  
Vol 46 (06) ◽  
pp. 420-423 ◽  
Author(s):  
Huseyin Per ◽  
Mehmet Canpolat ◽  
Ege Ulgen ◽  
Burçin Baran ◽  
Fatih Kardas ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Adolescent Girl ◽  
Tangier Disease ◽  
Genetic Features

scholarly journals A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation

2016 ◽  
Vol 7 ◽  
Author(s):  
Marco Ceccanti ◽  
Chiara Cambieri ◽  
Vittorio Frasca ◽  
Emanuela Onesti ◽  
Antonella Biasiotta ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Tangier Disease ◽  
Abca1 Gene ◽  
Italian Family ◽  
Neurological Presentation

Tangier disease. A case with sensorimotor distal polyneuropathy and lipid accumulation in striated muscle and vasa nervorum

1985 ◽  
Vol 67 (1-2) ◽  
pp. 121-127 ◽  
Author(s):  
A. Marbini ◽  
F. Gemignani ◽  
G. Ferrarini ◽  
S. Maccari ◽  
B. Lucci ◽  
...  
Keyword(s):  
Lipid Accumulation ◽  
Striated Muscle ◽  
Tangier Disease ◽  
Vasa Nervorum

Abstract 392: The Plasma Proteome of Tangier Disease Patients Reveals Perturbations of Diabetic and Inflammatory Pathways

2016 ◽  
Vol 36 (suppl_1) ◽  
Author(s):  
James T McParland ◽  
Evanthia Pashos ◽  
Daniel J Rader ◽  
Marina Cuchel
Keyword(s):  
Inflammatory Response ◽  
Type Ii Diabetes ◽  
Enrichment Analysis ◽  
Nonparametric Test ◽  
Type Ii Diabetes Mellitus ◽  
Gene Set Enrichment Analysis ◽  
P Value ◽  
Type Ii ◽  
Tangier Disease ◽  
Inflammatory Pathways

Aim: The ATP-binding cassette transporter 1 (ABCA1) is a membrane protein well known for its role in cholesterol efflux and HDL formation. Recently, ABCA1 has been implicated as playing a key role in other processes, such as insulin secretion and inflammatory response. We sought to further investigate these potential roles through a quantitative proteomics approach. Specifically, we hypothesized that we could detect differential protein signatures in the plasma of Tangier patients that correspond to pathways involved in diabetes and inflammation. Methods: We used SOMAscan® technology (SomaLogic, Boulder, CO, USA) to analyze plasma collected from 5 Tangier disease patients (homozygotes or compound heterozygotes for functional ABCA1 mutations) and 7 normolipidemic controls. We tested for differences in the levels of approximately 1,000 plasma proteins using a nonparametric test (KS). We then performed Ingenuity Canonical Pathway analysis to examine if proteins linked to diabetes and inflammation pathways were significantly more likely to be differentially abundant in the plasma. We corroborated the results using Gene Set Enrichment Analysis (GSEA). Results: We found an enrichment in differentially abundant proteins involved in type II diabetes mellitus signaling (p-value=0.0002) and inflammatory pathways, such as granulocyte adhesion and diapedesis (p-value=2.2*10 -12 ). These results were also corroborated by GSEA, where gene sets corresponding to GO biological processes such as immune response (p-value=0.008) and inflammatory response (p-value=0.032) ranked at the top of the enrichment results. Conclusions: The results from this pilot study support the concept that ABCA1 is implicated in pathways affecting immune and inflammatory response and type II diabetes.

Sign in / Sign up

Export Citation Format

Share Document