Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Jorge Asin-Cayuela"'
Publikováno v:
Journal of Medical Case Reports, Vol 11, Iss 1, Pp 1-6 (2017)
Abstract 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 result in the absence of functional peroxisome
Externí odkaz:
https://doaj.org/article/af77a797fb08458ba9724a7e3c62f380
Autor:
Kalliopi Sofou, Kolja Meier, Leslie E Sanderson, Debora Kaminski, Laia Montoliu‐Gaya, Emma Samuelsson, Maria Blomqvist, Lotta Agholme, Jutta Gärtner, Chris Mühlhausen, Niklas Darin, Tahsin Stefan Barakat, Lars Schlotawa, Tjakko van Ham, Jorge Asin Cayuela, Fredrik H Sterky
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 5, Pp 1-21 (2021)
Abstract Lysosomal storage diseases, including mucopolysaccharidoses, result from genetic defects that impair lysosomal catabolism. Here, we describe two patients from two independent families presenting with progressive psychomotor regression, delay
Externí odkaz:
https://doaj.org/article/4136db5871f54bce829ae48563537d48
Publikováno v:
World Journal of Hepatology. 14:1687-1691
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9f3df977052015619d0bf495922bc1d7
https://doi.org/10.4254/wjh.v14.i8.1687
https://doi.org/10.4254/wjh.v14.i8.1687
Autor:
Tjakko J. van Ham, Laia Montoliu-Gaya, Niklas Darin, Fredrik H. Sterky, Leslie E. Sanderson, Lars Schlotawa, Kalliopi Sofou, Maria Blomqvist, Jutta Gärtner, Emma Samuelsson, Jorge Asin Cayuela, Chris Mühlhausen, Kolja Meier, Tahsin Stefan Barakat, Debora Kaminski, Lotta Agholme
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 5, Pp n/a-n/a (2021)
EMBO Molecular Medicine
EMBO Molecular Medicine, 13(5):e13376. Wiley-Blackwell
EMBO Molecular Medicine
EMBO Molecular Medicine, 13(5):e13376. Wiley-Blackwell
Lysosomal storage diseases, including mucopolysaccharidoses, result from genetic defects that impair lysosomal catabolism. Here, we describe two patients from two independent families presenting with progressive psychomotor regression, delayed myelin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d422989cd6775a67d23f79984c39c6ae
https://doi.org/10.15252/emmm.202013376
https://doi.org/10.15252/emmm.202013376
Autor:
Christina, Drevinge, Knut T, Dalen, Maria Nastase, Mannila, Margareta Scharin, Täng, Marcus, Ståhlman, Martina, Klevstig, Annika, Lundqvist, Ismena, Mardani, Fred, Haugen, Per, Fogelstrand, Martin, Adiels, Jorge, Asin-Cayuela, Charlotte, Ekestam, Jesper R, Gådin, Yun K, Lee, Hilde, Nebb, Sara, Svedlund, Bengt R, Johansson, Lillemor Mattsson, Hultén, Stefano, Romeo, Björn, Redfors, Elmir, Omerovic, Max, Levin, Li-Ming, Gan, Per, Eriksson, Linda, Andersson, Ewa, Ehrenborg, Alan R, Kimmel, Jan, Borén, Malin C, Levin
Publikováno v:
International Journal of Cardiology. 219:446-454
BackgroundMyocardial 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 the function of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::9cb06d9b1e93f605778064cc0a67807e
Autor:
Julia Lindgren, Niklas Darin, Karin Leckström, Gabriella Almén, Jorge Asin-Cayuela, Per Sikora
Publikováno v:
European journal of human genetics : EJHG. 26(6)
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 analyze glutathione in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c41d6d7d71396b64740573ef255cdc4
https://pubmed.ncbi.nlm.nih.gov/29483667
https://pubmed.ncbi.nlm.nih.gov/29483667
Deficiency in perilipin 5 reduces mitochondrial function and membrane depolarization in mouse hearts
Autor:
Yun K. Lee, Malin Levin, Martin Adiels, Jan Borén, Ismena Mardani, Knut Tomas Dalen, Alan R. Kimmel, Jorge Asin-Cayuela, Marcus Ståhlman, Christina Drevinge, Max Levin, Ewa Ehrenborg, Fred Haugen, Per Fogelstrand, Annika Lundqvist, Lillemor Mattsson Hultén, Linda Andersson, Martina Klevstig
Publikováno v:
The international journal of biochemistrycell biology. 91
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. Previously, we show
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46c7295494d65c9bc806e071bfd93b87
https://pubmed.ncbi.nlm.nih.gov/28811250
https://pubmed.ncbi.nlm.nih.gov/28811250
Autor:
Elisabeth Holme, Maria H. Holmström, Kalliopi Sofou, Mar Tulinius, Jorge Asin-Cayuela, Claes M. Gustafsson, Niklas Darin, Gittan Kollberg, Anders Oldfors, Marcela Davila
Publikováno v:
Molecular Genetics & Genomic Medicine
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 encoding the gamma subunit of the mitocho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfb73023676d8c0404fe41bc830a2142
https://doi.org/10.1002/mgg3.115
https://doi.org/10.1002/mgg3.115
Autor:
Maria Blomqvist, Julia Lindgren, Hilde Monica Frostad Riise Stensland, Marie Falkenberg Smeland, Jorge Asin-Cayuela, Per Sikora
Publikováno v:
Cold Spring Harbor Molecular Case Studies
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 MANBA and is extremely rare in humans. Although the clinica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa4dd77dae3d39cc2acc1e08725e68ea
https://doi.org/10.1101/mcs.a003954
https://doi.org/10.1101/mcs.a003954
Autor:
Elsebet Ostergaard, Bodil Damgaard, Gittan Kollberg, Maria J Miranda, Anders Oldfors, Kirstine Ravn, Flemming Wibrand, Jorge Asin Cayuela, Sabine Grønborg, Thomas Hansen, Niklas Darin
Publikováno v:
JIMD Reports ISBN: 9783662550113
Isolated complex II deficiency is a rare cause of mitochondrial disease and bi-allelic mutations in SDHB have been identified in only a few patients with complex II deficiency and a progressive neurological phenotype with onset in infancy. On the oth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::199ae9df56417a84ea8c9555b7a7dc91
https://pubmed.ncbi.nlm.nih.gov/27604842
https://pubmed.ncbi.nlm.nih.gov/27604842