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Quoted phrase not found in phrase index: "Mitochondrial complex IV deficiency, nuclear type 1"
Page 1
Detecting respiratory chain defects in osteoblasts from osteoarthritic patients using imaging mass cytometry.
Hipps D, Dobson PF, Warren C, McDonald D, Fuller A, Filby A, Bulmer D, Laude A, Russell O, Deehan DJ, Turnbull DM, Lawless C. Hipps D, et al. Bone. 2022 May;158:116371. doi: 10.1016/j.bone.2022.116371. Epub 2022 Feb 19. Bone. 2022. PMID: 35192969 Free article.
Once the concentration of any pathogenic mitochondrial genome variant exceeds a threshold, respiratory chain deficiency and cellular dysfunction occur. ...By comparing bone tissue sampled at one timepoint from femoral neck of 10 older healthy volunteers aged 40-85 w …
Once the concentration of any pathogenic mitochondrial genome variant exceeds a threshold, respiratory chain deficiency and ce …
Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.
Abdulhag UN, Soiferman D, Schueler-Furman O, Miller C, Shaag A, Elpeleg O, Edvardson S, Saada A. Abdulhag UN, et al. Eur J Hum Genet. 2015 Feb;23(2):159-64. doi: 10.1038/ejhg.2014.85. Epub 2014 Apr 30. Eur J Hum Genet. 2015. PMID: 24781756 Free PMC article.
Isolated cytochrome c oxidase (COX) deficiency is a prevalent cause of mitochondrial disease and is mostly caused by nuclear-encoded mutations in assembly factors while rarely by mutations in structural subunits. We hereby report a case o …
Isolated cytochrome c oxidase (COX) deficiency is a prevalent cause of mitochondrial disease and is mostl …
Impaired insulin secretion and beta-cell loss in tissue-specific knockout mice with mitochondrial diabetes.
Silva JP, Köhler M, Graff C, Oldfors A, Magnuson MA, Berggren PO, Larsson NG. Silva JP, et al. Nat Genet. 2000 Nov;26(3):336-40. doi: 10.1038/81649. Nat Genet. 2000. PMID: 11062475
Mitochondrial dysfunction is an important contributor to human pathology and it is estimated that mutations of mitochondrial DNA (mtDNA) cause approximately 0.5-1% of all types of diabetes mellitus. We have generated a mouse model for mitochondrial dia …
Mitochondrial dysfunction is an important contributor to human pathology and it is estimated that mutations of mitochondrial D …
A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.
von Kleist-Retzow JC, Cormier-Daire V, de Lonlay P, Parfait B, Chretien D, Rustin P, Feingold J, Rötig A, Munnich A. von Kleist-Retzow JC, et al. Am J Hum Genet. 1998 Aug;63(2):428-35. doi: 10.1086/301957. Am J Hum Genet. 1998. PMID: 9683589 Free PMC article.
By studying a large series of 157 patients, we found that complex I (33%), complex IV (28%), and complex I+IV (28%) deficiencies were the most common causes of respiratory chain (RC) defects in childhood. ...The sex ratio (male/female) in our en …
By studying a large series of 157 patients, we found that complex I (33%), complex IV (28%), and complex I+IV …
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient.
Piro E, Serra G, Antona V, Giuffrè M, Giorgio E, Sirchia F, Schierz IAM, Brusco A, Corsello G. Piro E, et al. Ital J Pediatr. 2020 Sep 24;46(1):140. doi: 10.1186/s13052-020-00903-7. Ital J Pediatr. 2020. PMID: 32972427 Free PMC article.
BACKGROUND: Mitochondrial diseases, also known as oxidative phosphorylation (OXPHOS) disorders, with a prevalence rate of 1:5000, are the most frequent inherited metabolic diseases. Leigh Syndrome French Canadian type (LSFC), is caused by mutations in the …
BACKGROUND: Mitochondrial diseases, also known as oxidative phosphorylation (OXPHOS) disorders, with a prevalence rate of 1:50 …