| ETFDH mutation involves excessive apoptosis and neurite outgrowth defect via Bcl2 pathway. | ETFDH mutation involves excessive apoptosis and neurite outgrowth defect via Bcl2 pathway.
Lin CY, Liang WC, Yu YC, Chang SC, Lai MC, Jong YJ., Free PMC Article | 10/31/2024 |
| Multiple acyl-CoA dehydrogenase deficiency kills Mycobacterium tuberculosis in vitro and during infection. | Multiple acyl-CoA dehydrogenase deficiency kills Mycobacterium tuberculosis in vitro and during infection.
Beites T, Jansen RS, Wang R, Jinich A, Rhee KY, Schnappinger D, Ehrt S., Free PMC Article | 12/18/2021 |
| Screening of multiple acyl-CoA dehydrogenase deficiency in newborns and follow-up of patients. | Screening of multiple acyl-CoA dehydrogenase deficiency in newborns and follow-up of patients.
Zhou D, Ye M, Hu Z, Zhang Y, Zhu L, Yang R, Huang X., Free PMC Article | 11/6/2021 |
| ETF dehydrogenase advances in molecular genetics and impact on treatment. | ETF dehydrogenase advances in molecular genetics and impact on treatment.
Missaglia S, Tavian D, Angelini C. | 10/2/2021 |
| Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2. | Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.
Xiao C, Astiazaran-Symonds E, Basu S, Kisling M, Scaglia F, Chapman KA, Wang Y, Vockley J, Ferreira CR., Free PMC Article | 06/5/2021 |
| Clinical characteristics and gene mutation analysis of an adult patient with ETFDHrelated multiple acylCoA dehydrogenase deficiency. | Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency.
Wang C, Lv H, Xu X, Ma Y, Li Q., Free PMC Article | 05/1/2021 |
| Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency. | Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.
Henriques BJ, Lucas TG, Martins E, Gaspar A, Bandeira A, Nogueira C, Brandão O, Rocha H, Vilarinho L, Gomes CM. | 08/22/2020 |
| the two variants of ETFDH gene identified probably underlie the pathogenesis of Glutaric acidemia type II in this family, and also enlarge ETFDH genotype-phenotype correlations spectrum. | A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.
Ou M, Zhu L, Zhang Y, Zhang Y, Zhou J, Zhang Y, Chen X, Yang L, Li T, Su X, Hu Q, Wang W., Free PMC Article | 07/18/2020 |
| Low tumor expression of ETFDH was associated with a poorer overall survival in patients with hepatocellular carcinoma. | Expression and significance of ETFDH in hepatocellular carcinoma.
Wu Y, Zhang X, Shen R, Huang J, Lu X, Zheng G, Chen X. | 05/2/2020 |
| A mutation is the most common EFTDH mutation in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency and is most prevalent in China and South-East Asia where its epidemiology correlates with the distribution and migration patterns of the southern Min population in Southern China and neighbouring countries | Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations.
Chen W, Zhang Y, Ni Y, Cai S, Zheng X, Mastaglia FL, Wu J., Free PMC Article | 03/21/2020 |
| Mutations of the ETFDH gene probably underlie the pathogenesis of lipid storage myopathy in this family | [Analysis of ETFDH gene variation in a Chinese family affected with lipid storage myopathy].
Xia Y, Kong X. | 11/2/2019 |
| Multiple acyl-CoA dehydrogenase deficiency is cause by electron transfer flavoprotein ubiquinone oxidoreductase mutation at heterozygotes with c.1354A>G (p.Arg452Gly) and exon 7-8 deletion for Patient 1, and with c.831+3A>C and exon 1-7 deletion for Patient 2. | Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases.
Kim YJ, Ko JM, Song J, Lee KA., Free PMC Article | 02/23/2019 |
| This case report extends the spectrum of ETFDH mutations in multiple acyl-CoA dehydrogenase deficiency (MADD), providing further evidence that patients presenting at least one missense mutation in the FAD-binding domain may respond to either carnitine or riboflavin treatment, due to the recovery of some enzymatic activity. | Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Missaglia S, Tavian D, Moro L, Angelini C., Free PMC Article | 02/2/2019 |
| Neurite shortening and impairment in neurite growth was caused by a mutation in ETFDH. | Neurite growth could be impaired by ETFDH mutation but restored by mitochondrial cofactors.
Liang WC, Lin YF, Liu TY, Chang SC, Chen BH, Nishino I, Jong YJ. | 09/16/2017 |
| This study identified three novel compound heterozygous mutations of ETFDH gene in patients with late-onset multiple acyl-CoA dehydrogenase deficiency, and discussed the significant clinical heterogeneity among patients with similar genotype. | Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Fu HX, Liu XY, Wang ZQ, Jin M, Wang DN, He JJ, Lin MT, Wang N. | 01/28/2017 |
| ETFDH mutation is the causative gene in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency with severe sensory neuropathy. | Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency.
Wang Z, Hong D, Zhang W, Li W, Shi X, Zhao D, Yang X, Lv H, Yuan Y. | 12/17/2016 |
| Mtation c.250G>A and mutation c.353G>T in the ETFDH gene are associate with multiple aeyl-CoA dehydrogenase deficiency with severe fatty liver. | [Clinical features and gene mutations in a patient with multiple aeyl-CoA dehydrogenase deficiency with severe fatty liver].
Dai D, Wen F, Zhou S, Chen S. | 07/2/2016 |
| identified 61 ETFDH mutations, including 31 novel mutations, which were widely distributed within the coding sequence | Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Xi J, Wen B, Lin J, Zhu W, Luo S, Zhao C, Li D, Lin P, Lu J, Yan C. | 02/21/2015 |
| Mutations in SLC22A5 and ETFDH are associated with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency. | [Mutation analysis for a family affected with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency].
Lu J, Ji L. | 10/11/2014 |
| Results show that a predicted benign ETFDH missense variationc.158A>G in exon 2 causes exon skipping and degradation of ETFDH protein in patient samples. | The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.
Olsen RK, Brøner S, Sabaratnam R, Doktor TK, Andersen HS, Bruun GH, Gahrn B, Stenbroen V, Olpin SE, Dobbie A, Gregersen N, Andresen BS. | 08/9/2014 |
| Case Report: ETF dehydrogenase mutations resulting in mild glutaric aciduria type II and complex II-III deficiency in liver and muscle. | Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.
Wolfe LA, He M, Vockley J, Payne N, Rhead W, Hoppel C, Spector E, Gernert K, Gibson KM., Free PMC Article | 04/12/2014 |
| folding defects in the variant ETF-QO proteins and multiple acyl-CoA dehydrogenation deficiency | Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency.
Cornelius N, Frerman FE, Corydon TJ, Palmfeldt J, Bross P, Gregersen N, Olsen RK. | 06/29/2013 |
| a significant reduced expression of ETFDH was identified in the muscle of ETFDH-deficient patients; ETFDH deficiency is a major cause of riboflavin-responsive MADD in southern China, and c.250G>A is an important mutation | Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A.
Wang ZQ, Chen XJ, Murong SX, Wang N, Wu ZY. | 09/24/2011 |
| High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy | High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.
Lan MY, Fu MH, Liu YF, Huang CC, Chang YY, Liu JS, Peng CH, Chen SS. | 02/26/2011 |
| 3 known (c.250G>A, c380T>A, c.524G>T) and 1 novel (c.1831G>A) ETFDH mutation were detected by high resolution melting analysis. The carrier frequency of the hotspot mutation, c.250G>A, in the Taiwanese population was found to be 1:125. | High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Er TK, Liang WC, Chang JG, Jong YJ. | 08/2/2010 |