Jorge Asin-Cayuela
Overview
Explore the profile of Jorge Asin-Cayuela including associated specialties, affiliations and a list of published articles.
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Articles
13
Citations
476
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Recent Articles
1.
Schult A, Andersson M, Asin-Cayuela J, Olsson K
World J Hepatol
. 2022 Sep;
14(8):1687-1691.
PMID: 36157863
Background: Wilson's disease (WD) is a rare inherited disorder of copper metabolism. Treatment consists of chelating agents, but side effects are common. We describe a patient who developed colitis during...
2.
Blomqvist M, Smeland M, Lindgren J, Sikora P, Riise Stensland H, Asin-Cayuela J
Cold Spring Harb Mol Case Stud
. 2019 Mar;
5(3).
PMID: 30886116
β-Mannosidosis is a lysosomal storage disorder characterized by accumulation of disaccharides due to deficiency of the lysosomal enzyme β-mannosidase. The disease is caused by mutations in and is extremely rare...
3.
Darin N, Leckstrom K, Sikora P, Lindgren J, Almen G, Asin-Cayuela J
Eur J Hum Genet
. 2018 Feb;
26(6):808-817.
PMID: 29483667
γ-Glutamyl transpeptidase deficiency (glutathionuria, OMIM 231950) is a rare disease, with only six patients reported in the literature, although this condition has probably been underdiagnosed due the difficulty to routinely...
4.
Deficiency in perilipin 5 reduces mitochondrial function and membrane depolarization in mouse hearts
Andersson L, Drevinge C, Mardani I, Dalen K, Stahlman M, Klevstig M, et al.
Int J Biochem Cell Biol
. 2017 Aug;
91(Pt A):9-13.
PMID: 28811250
Myocardial triglycerides stored in lipid droplets are important in regulating the intracellular delivery of fatty acids for energy generation in mitochondria, for membrane biosynthesis, and as agonists for intracellular signaling....
5.
Blomqvist M, Ahlberg K, Lindgren J, Ferdinandusse S, Asin-Cayuela J
J Med Case Rep
. 2017 Aug;
11(1):218.
PMID: 28784167
Background: The peroxisome biogenesis disorders, which are caused by mutations in any of 13 different PEX genes, include the Zellweger spectrum disorders. Severe defects in one of these PEX genes...
6.
Drevinge C, Dalen K, Mannila M, Tang M, Stahlman M, Klevstig M, et al.
Int J Cardiol
. 2016 Jul;
219:446-54.
PMID: 27376234
Background: Myocardial ischemia is associated with alterations in cardiac metabolism, resulting in decreased fatty acid oxidation and increased lipid accumulation. Here we investigate how myocardial lipid content and dynamics affect...
7.
Grahn A, Bengtson P, Eklund E, Asin-Cayuela J
Clin Biochem
. 2015 Dec;
49(6):511-513.
PMID: 26656560
Objectives: In the process of obtaining a driver's license, a healthy 28year old man presented increased levels of disialo-transferrin (TF) (approx. 20%, ref. value<2) by HPLC analysis of TF isoforms...
8.
Euro L, Konovalova S, Asin-Cayuela J, Tulinius M, Griffin H, Horvath R, et al.
Front Genet
. 2015 Feb;
6:21.
PMID: 25705216
The accuracy of mitochondrial protein synthesis is dependent on the coordinated action of nuclear-encoded mitochondrial aminoacyl-tRNA synthetases (mtARSs) and the mitochondrial DNA-encoded tRNAs. The recent advances in whole-exome sequencing have...
9.
Sofou K, Kollberg G, Holmstrom M, Davila M, Darin N, Gustafsson C, et al.
Mol Genet Genomic Med
. 2015 Jan;
3(1):59-68.
PMID: 25629079
Alpers syndrome is a progressive neurodegenerative disorder that presents in infancy or early childhood and is characterized by diffuse degeneration of cerebral gray matter. While mutations in POLG1, the gene...
10.
Bjorkman K, Sofou K, Darin N, Holme E, Kollberg G, Asin-Cayuela J, et al.
Mitochondrion
. 2015 Jan;
21:33-40.
PMID: 25615419
We report clinical, metabolic, genetic and neuroradiological findings in five patients from three different families with isolated complex I deficiency. Genetic analysis revealed mutations in NDUFS1 in three patients and...