Effects of Bezafibrate Treatment in a Patient and a Carrier With Mutations in the PNPLA2 Gene, Causing Neutral Lipid Storage Disease With Myopathy-Reference-Cited by-同舟云学术

Effects of Bezafibrate Treatment in a Patient and a Carrier With Mutations in the PNPLA2 Gene, Causing Neutral Lipid Storage Disease With Myopathy

Published:2013-03 Issue:5 Volume:112 Page:
ISSN:0009-7330
Container-title:Circulation Research
language:en
Short-container-title:Circ Res

Author:

van de Weijer Tineke¹,Havekes Bas²,Bilet Lena¹,Hoeks Joris¹,Sparks Lauren¹,Bosma Madeleen¹,Paglialunga Sabina¹,Jorgensen Johanna¹,Janssen Mirian C.H.³,Schaart Gert⁴,Sauerwein Hans²,Smeets Joep L.⁵,Wildberger Joachim⁶,Zechner Rudolf⁷,Schrauwen-Hinderling Vera B.⁶,Hesselink Matthijs K.C.⁴,Schrauwen Patrick¹

Affiliation:

1. Department of Human BiologyNUTRIM School for Nutrition, Toxicology, and MetabolismMaastricht University Medical CenterMaastricht, the Netherlands

2. Department of Internal MedicineDivision of EndocrinologyNUTRIM School for Nutrition, Toxicology, and MetabolismMaastricht University Medical CenterMaastricht, the Netherlands

3. Department of General Internal MedicineRadboud University Nijmegen Medical CentreNijmegen, the Netherlands

4. Department of Human Movement SciencesNUTRIM School for Nutrition, Toxicology, and MetabolismMaastricht University Medical CenterMaastricht, the Netherlands

5. Department of CardiologyRadboud University Nijmegen Medical CentreNijmegen, the Netherlands

6. Department of RadiologyNUTRIM School for Nutrition, Toxicology, and MetabolismMaastricht University Medical CenterMaastricht, the Netherlands

7. Institute of Molecular BiosciencesUniversity of GrazGraz, Austria

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Cardiology and Cardiovascular Medicine,Physiology

Reference8 articles.

1. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy

2. Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2orCGI-58/ABHD5

3. Defective Lipolysis and Altered Energy Metabolism in Mice Lacking Adipose Triglyceride Lipase

4. ATGL-mediated fat catabolism regulates cardiac mitochondrial function via PPAR-α and PGC-1

5. Glucose clamp technique: a method for quantifying insulin secretion and resistance.

Cited by 39 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Two PNPLA2 heterozygous mutations result in neutral lipid storage disease with myopathy: a case report;BMC Musculoskeletal Disorders;2024-08-23

2. The tissue‐specific metabolic effects of the PPARα agonist ciprofibrate in insulin‐resistant male individuals: a double‐blind, randomized, placebo‐controlled crossover study;Obesity;2023-09-05

3. HyperCKemia: An early sign of childhood-onset neutral lipid storage disease with myopathy;Neuromuscular Disorders;2023-09

4. Peroxisome proliferator-activated receptor (PPAR) agonists as a potential therapy for inherited metabolic disorders;Biochemical Pharmacology;2023-03

5. Blocking Lipid Uptake Pathways Does not Prevent Toxicity in Adipose Triglyceride Lipase (ATGL) Deficiency;Journal of Lipid Research;2022-11