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2020 5
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Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital.
Stenton SL, Zou Y, Cheng H, Liu Z, Wang J, Shen D, Jin H, Ding C, Tang X, Sun S, Han H, Ma Y, Zhang W, Jin R, Wang H, Sun D, Lv JL, Prokisch H, Fang F. Stenton SL, et al. Ann Neurol. 2022 Apr;91(4):466-482. doi: 10.1002/ana.26313. Epub 2022 Mar 6. Ann Neurol. 2022. PMID: 35094435
RESULTS: Pathogenic variants were identified in 52 genes, most frequently MT-ATP6, SURF1, and PDHA1. Maternally inherited variants accounted for 42% (heteroplasmy level 90% in 64%). ...Discriminating neuroimaging and/or clinical features were identified for MT-ATP6 (m.9176 …
RESULTS: Pathogenic variants were identified in 52 genes, most frequently MT-ATP6, SURF1, and PDHA1. Maternally inherited variants ac …
Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome.
Inak G, Rybak-Wolf A, Lisowski P, Pentimalli TM, Jüttner R, Glažar P, Uppal K, Bottani E, Brunetti D, Secker C, Zink A, Meierhofer D, Henke MT, Dey M, Ciptasari U, Mlody B, Hahn T, Berruezo-Llacuna M, Karaiskos N, Di Virgilio M, Mayr JA, Wortmann SB, Priller J, Gotthardt M, Jones DP, Mayatepek E, Stenzel W, Diecke S, Kühn R, Wanker EE, Rajewsky N, Schuelke M, Prigione A. Inak G, et al. Nat Commun. 2021 Mar 26;12(1):1929. doi: 10.1038/s41467-021-22117-z. Nat Commun. 2021. PMID: 33771987 Free PMC article.
Using patient-derived induced pluripotent stem cells and CRISPR/Cas9 engineering, we developed a human model of LS caused by mutations in the complex IV assembly gene SURF1. Single-cell RNA-sequencing and multi-omics analysis revealed compromised neuronal morphogenesis in …
Using patient-derived induced pluripotent stem cells and CRISPR/Cas9 engineering, we developed a human model of LS caused by mutations in th …
Genetic variants affecting mitochondrial function provide further insights for kidney disease.
Cañadas-Garre M, Baños-Jaime B, Maqueda JJ, Smyth LJ, Cappa R, Skelly R, Hill C, Brennan EP, Doyle R, Godson C, Maxwell AP, McKnight AJ. Cañadas-Garre M, et al. BMC Genomics. 2024 Jun 10;25(1):576. doi: 10.1186/s12864-024-10449-1. BMC Genomics. 2024. PMID: 38858654 Free PMC article.
The G allele of TBC1D32-rs113987180 was associated with higher risk of ESKD in patients with diabetes (OR:9.879; CI(95%):4.440-21.980; P = 2.0E-08). In UK-ROI, AGXT2-rs71615838 and SURF1-rs183853102 were associated with diabetic nephropathies, and TFB1M-rs869120 with eGFR. …
The G allele of TBC1D32-rs113987180 was associated with higher risk of ESKD in patients with diabetes (OR:9.879; CI(95%):4.440-21.980; P = 2 …
Natural History of SURF1 Deficiency: A Retrospective Chart Review.
Khan TR, Leprince I, Messahel S, Minassian BA, Kayani S. Khan TR, et al. Pediatr Neurol. 2023 Mar;140:40-46. doi: 10.1016/j.pediatrneurol.2022.12.002. Epub 2022 Dec 7. Pediatr Neurol. 2023. PMID: 36599233
BACKGROUND: This retrospective chart review evaluated the clinical characteristics of SURF1-related neurological disease spectrum to better characterize the phenotypes. METHODS: Patient demographics, magnetic resonance imaging abnormalities, neurological events, motor abno …
BACKGROUND: This retrospective chart review evaluated the clinical characteristics of SURF1-related neurological disease spectrum to …
Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.
Lee JS, Yoo T, Lee M, Lee Y, Jeon E, Kim SY, Lim BC, Kim KJ, Choi M, Chae JH. Lee JS, et al. Clin Genet. 2020 Apr;97(4):586-594. doi: 10.1111/cge.13713. Epub 2020 Feb 10. Clin Genet. 2020. PMID: 32020600
The following 17 genes analyzed in 40 families were found to have genetic complexity: MTATP6, MTND1, MTND3, MTND5, MTND6, MTTK, NDUFS1, NDUFV1, NDUFAF6, SURF1, SLC19A3, ECHS1, PNPT1, IARS2, NARS2, VPS13D, and NAXE. Two treatable cases had biotin-thiamine responsive basal g …
The following 17 genes analyzed in 40 families were found to have genetic complexity: MTATP6, MTND1, MTND3, MTND5, MTND6, MTTK, NDUFS1, NDUF …
Analysis of the prognostic value of mitochondria-related genes in patients with acute myocardial infarction.
Qiu J, Gu Y. Qiu J, et al. BMC Cardiovasc Disord. 2024 Aug 5;24(1):408. doi: 10.1186/s12872-024-04051-2. BMC Cardiovasc Disord. 2024. PMID: 39103773 Free PMC article.
According to the PPI network, 5 key mitochondria-related genes in AMI were obtained: translational activator of cytochrome c oxidase I (TACO1), cytochrome c oxidase subunit Va (COX5A), PTEN-induced putative kinase 1 (PINK1), SURF1, and NDUFA11. Molecular docking showed tha …
According to the PPI network, 5 key mitochondria-related genes in AMI were obtained: translational activator of cytochrome c oxidase I (TACO …
SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype.
Kayani S, Daescu V, Dahshi H, Messahel S, Woleban K, Minassian BA, Ling Q, Gray SJ. Kayani S, et al. Am J Med Genet A. 2025 Apr;197(4):e63947. doi: 10.1002/ajmg.a.63947. Epub 2024 Dec 5. Am J Med Genet A. 2025. PMID: 39632678
Leigh syndrome, a severe neurological disorder is commonly caused by homozygous or bi-allelic pathogenic variants in the SURF1 gene. SURF1 deficiency leads to dysfunction of Cytochrome C Oxidase (COX) activity, which is crucial for mitochondrial oxidative phosphoryl …
Leigh syndrome, a severe neurological disorder is commonly caused by homozygous or bi-allelic pathogenic variants in the SURF1 gene. …
Genetic Polymorphisms Involved in Mitochondrial Metabolism and Pancreatic Cancer Risk.
Peduzzi G, Gentiluomo M, Tavano F, Arcidiacono PG, Ermini S, Vodicka P, Boggi U, Cavestro GM, Capurso G, Morelli L, Milanetto AC, Pezzilli R, Lawlor RT, Carrara S, Lovecek M, Souček P, Guo F, Hackert T, Uzunoğlu FG, Gazouli M, Párniczky A, Kupcinskas J, Bijlsma MF, Bueno-de-Mesquita B, Vermeulen R, van Eijck CHJ, Jamroziak K, Talar-Wojnarowska R, Greenhalf W, Gioffreda D, Petrone MC, Landi S, Archibugi L, Puzzono M, Funel N, Sperti C, Piredda ML, Mohelnikova-Duchonova B, Lu Y, Hlaváč V, Gao X, Schneider M, Izbicki JR, Theodoropoulos G, Bunduc S, Kreivenaite E, Busch OR, Małecka-Panas E, Costello E, Perri F, Testoni SGG, Vanella G, Pasquali C, Oliverius M, Brenner H, Loos M, Götz M, Georgiou K, Erőss B, Maiello E, Szentesi A, Bazzocchi F, Basso D, Neoptolemos JP, Hegyi P, Kiudelis V, Canzian F, Campa D. Peduzzi G, et al. Cancer Epidemiol Biomarkers Prev. 2021 Dec;30(12):2342-2345. doi: 10.1158/1055-9965.EPI-21-0353. Epub 2021 Sep 15. Cancer Epidemiol Biomarkers Prev. 2021. PMID: 34526302
In the gene-level analysis, we observed that three genes (TERT, SUGCT, and SURF1) involved in the mitochondrial metabolism showed an association below the Bonferroni-corrected threshold of statistical significance (P = 0.05/1588 = 3.1 10(-5)). ...
In the gene-level analysis, we observed that three genes (TERT, SUGCT, and SURF1) involved in the mitochondrial metabolism showed an …
Functional studies of Plasmodium falciparum putative SURF1 in Saccharomyces cerevisiae.
Chellappan S, Roy S, Nagmoti JM, Tabassum W, Vukanti R, Hoti SL, Bhattacharyya MK, Nina PB. Chellappan S, et al. J Vector Borne Dis. 2020 Oct-Dec;57(4):325-330. doi: 10.4103/0972-9062.311773. J Vector Borne Dis. 2020. PMID: 34856712
RESULTS: Similarity searches of PfSURF1-like protein in the Pfam shows statistically significant E = 4.7e-10 match to SURF1 family. Sequence alignment of PfSURF1 with other SURF1-like proteins reveals the conservation of transmembrane domains, alpha-helices and beta …
RESULTS: Similarity searches of PfSURF1-like protein in the Pfam shows statistically significant E = 4.7e-10 match to SURF1 family. S …
Spinal Nerve Roots Abnormalities on MRI in a Child with SURF1 Mitochondrial Disease.
Rubino A, Bruno G, Mazio F, de Leva MF, Ruggiero L, Santorelli FM, Varone A. Rubino A, et al. Neuropediatrics. 2022 Jun;53(3):208-212. doi: 10.1055/s-0041-1739135. Epub 2021 Dec 1. Neuropediatrics. 2022. PMID: 34852375
Spinal nerve roots abnormalities on MRI are novel findings in LS associated with variants in SURF1. Here we report detailed neuroradiological and neurophysiologic findings in a child with LS and demyelinating neuropathy SURF1-related. ...It remains to elucidate if t …
Spinal nerve roots abnormalities on MRI are novel findings in LS associated with variants in SURF1. Here we report detailed neuroradi …
20 results