Genetic therapy in a mitochondrial disease model suggests a critical role for liver dysfunction in mortality

Autor: Ankit Sabharwal, Mark D Wishman, Roberto Lopez Cervera, MaKayla R Serres, Jennifer L Anderson, Shannon R Holmberg, Bibekananda Kar, Anthony J Treichel, Noriko Ichino, Weibin Liu, Jingchun Yang, Yonghe Ding, Yun Deng, Jean M Lacey, William J Laxen, Perry R Loken, Devin Oglesbee, Steven A Farber, Karl J Clark, Xiaolei Xu, Stephen C Ekker

Publikováno v: eLife, Vol 11 (2022)

The clinical and largely unpredictable heterogeneity of phenotypes in patients with mitochondrial disorders demonstrates the ongoing challenges in the understanding of this semi-autonomous organelle in biology and disease. Previously, we used the gen

Externí odkaz: https://doaj.org/article/c6f4d43f2d7246b09a3bf4b4734cee47

Cerebrospinal fluid 2-hydroxyglutarate (2-HG) as a monitoring biomarker for IDH-mutant gliomas

Autor: Cecile Riviere-Cazaux, Jean M Lacey, Lucas P Carlstrom, William J Laxen, Amanda Munoz-Casabella, Matthew D Hoplin, Samar Ikram, Abdullah Bin Zubair, Katherine M Andersen, Arthur E Warrington, Paul A Decker, Timothy J Kaufmann, Jian L Campian, Jeanette E Eckel-Passow, Sani H Kizilbash, Silvia Tortorelli, Terry C Burns

Publikováno v: medRxiv

D-2-hydroxyglutarate (D-2-HG) is a well-established oncometabolite of isocitrate dehydrogenase (IDH) mutant gliomas. While prior studies have demonstrated that D-2-HG is elevated in the cerebrospinal fluid (CSF) of patients with IDH-mutant gliomas1,2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fe7c909c14104cb0444e6d8a2ca282f
https://doi.org/10.1093/noajnl/vdad061

Genetic therapy in a mitochondrial disease model suggests a critical role for liver dysfunction in mortality

Autor: Roberto Lopez Cervera, Mark D Wishman, Ankit Sabharwal, MaKayla R Serres, Jennifer L Anderson, Shannon R Holmberg, Bibekananda Kar, Anthony J Treichel, Noriko Ichino, Weibin Liu, Jingchun Yang, Yonghe Ding, Yun Deng, Jean M Lacey, William J Laxen, Perry R Loken, Devin Oglesbee, Steven A Farber, Karl J Clark, Xiaolei Xu, Stephen C Ekker

Publikováno v: eLife. 11

The clinical and largely unpredictable heterogeneity of phenotypes in patients with mitochondrial disorders demonstrates the ongoing challenges in the understanding of this semi-autonomous organelle in biology and disease. Previously, we used the gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::033a47376e08eecc2de14d2d8e035281
https://pubmed.ncbi.nlm.nih.gov/36408801

Cerebrospinal fluid 2-hydroxyglutarate as a monitoring biomarker for IDH-mutant gliomas.

Autor: Riviere-Cazaux, Cecile, Lacey, Jean M, Carlstrom, Lucas P, Laxen, William J, Munoz-Casabella, Amanda, Hoplin, Matthew D, Ikram, Samar, Zubair, Abdullah Bin, Andersen, Katherine M, Warrington, Arthur E, Decker, Paul A, Kaufmann, Timothy J, Campian, Jian L, Eckel-Passow, Jeanette E, Kizilbash, Sani H, Tortorelli, Silvia, Burns, Terry C

Publikováno v: Neuro-Oncology Advances; 2023, Vol. 5 Issue 1, p1-3, 3p

Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduria.

Autor: Perales-Clemente E; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA., Hewitt AL; Department of Child Neurology Mayo Clinic Rochester Minnesota USA., Studinski AL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA., Tillema JM; Department of Child Neurology Mayo Clinic Rochester Minnesota USA., Laxen WJ; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA., Oglesbee D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA., Graff AH; Departments of Pediatric and Adolescent Medicine and Family Medicine Mayo Clinic Rochester Minnesota USA., Rinaldo P; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA., Lanpher BC; Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA.

Publikováno v: JIMD reports [JIMD Rep] 2020 Nov 20; Vol. 58 (1), pp. 21-28. Date of Electronic Publication: 2020 Nov 20 (Print Publication: 2021).