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Year Number of Results
1998 2
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97 results

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Page 1
ETHE1 dampens colorectal cancer angiogenesis by promoting TC45 Dephosphorylation of STAT3 to inhibit VEGF-A expression.
She X, Xu J, Zhang H, Yu C, Rao Z, Zhang J, Zhan W, Hu F, Song D, Li H, Luo X, Wang G, Hu J, Lai S. She X, et al. Cell Death Dis. 2024 Aug 28;15(8):631. doi: 10.1038/s41419-024-07021-w. Cell Death Dis. 2024. PMID: 39198402 Free PMC article.
Angiogenesis is critical for colorectal cancer (CRC) progression, but its mechanisms remain unclear. Here, we reveal that ethylmalonic encephalopathy protein 1 (ETHE1), an essential enzyme in hydrogen sulfide catabolism, inhibits VEGF-A expression and tumor a …
Angiogenesis is critical for colorectal cancer (CRC) progression, but its mechanisms remain unclear. Here, we reveal that ethylmalonic …
Ethylmalonic encephalopathy masquerading as meningococcemia.
Horton A, Hong KM, Pandithan D, Allen M, Killick C, Goergen S, Springer A, Phelan D, Marty M, Halligan R, Lee J, Pitt J, Chong B, Christodoulou J, Lunke S, Stark Z, Fahey M. Horton A, et al. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006193. doi: 10.1101/mcs.a006193. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35165146 Free PMC article.
Ethylmalonic encephalopathy (MIM #602473) is a rare autosomal recessive metabolic condition caused by biallelic variants in ETHE1 (MIM #608451), characterized by global developmental delay, infantile hypotonia, seizures, and microvascular damage. ...Here, we …
Ethylmalonic encephalopathy (MIM #602473) is a rare autosomal recessive metabolic condition caused by biallelic variants in …
Emerging roles of hydrogen sulfide-metabolizing enzymes in cancer.
Dawoud A, Youness RA, Elsayed K, Nafae H, Allam H, Saad HA, Bourquin C, Szabo C, Abdel-Kader R, Gad MZ. Dawoud A, et al. Redox Rep. 2024 Dec;29(1):2437338. doi: 10.1080/13510002.2024.2437338. Epub 2024 Dec 6. Redox Rep. 2024. PMID: 39643979 Free PMC article. Review.
Key enzymes in this process include the sulfide oxidation unit (SOU), which includes sulfide:quinone oxidoreductase (SQOR), human ethylmalonic encephalopathy protein 1 (hETHE1), rhodanese, sulfite oxidase (SUOX/SO), and cytochrome c oxidase (CcO) enzymes. ...
Key enzymes in this process include the sulfide oxidation unit (SOU), which includes sulfide:quinone oxidoreductase (SQOR), human ethylma …
Ethylmalonic encephalopathy ETHE1 p. D165H mutation alters the mitochondrial function in human skeletal muscle proteome.
Sathe G, Deepha S, Gayathri N, Nagappa M, Parayil Sankaran B, Taly AB, Khanna T, Pandey A, Govindaraj P. Sathe G, et al. Mitochondrion. 2021 May;58:64-71. doi: 10.1016/j.mito.2021.02.011. Epub 2021 Feb 24. Mitochondrion. 2021. PMID: 33639274
Ethylmalonic encephalopathy (EE) is a rare autosomal recessive inborn error of metabolism. To study the molecular effects of ETHE1 p. D165H mutation, we employed mass spectrometry-based mitochondrial proteome and phosphoproteome profiling in the human skeleta …
Ethylmalonic encephalopathy (EE) is a rare autosomal recessive inborn error of metabolism. To study the molecular effects of …
Ethylmalonic Encephalopathy: a literature review and two new cases of mild phenotype.
Platt I, Bisgin A, Kilavuz S. Platt I, et al. Neurol Sci. 2023 Nov;44(11):3827-3852. doi: 10.1007/s10072-023-06904-8. Epub 2023 Jul 17. Neurol Sci. 2023. PMID: 37458841 Review.
BACKGROUND: Ethylmalonic encephalopathy (EE) is a rare intoxication-type metabolic disorder with multisystem involvement. It is caused by mutations in ETHE1, which encodes the ETHE1 enzyme in the mitochondrial matrix that plays a key role in hydrogen s …
BACKGROUND: Ethylmalonic encephalopathy (EE) is a rare intoxication-type metabolic disorder with multisystem involvement. It i …
Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre.
Henriques BJ, Lucas TG, Rodrigues JV, Frederiksen JH, Teixeira MS, Tiranti V, Bross P, Gomes CM. Henriques BJ, et al. PLoS One. 2014 Sep 8;9(9):e107157. doi: 10.1371/journal.pone.0107157. eCollection 2014. PLoS One. 2014. PMID: 25198162 Free PMC article.
Mutations in ETHE1 causing loss of function result in sulfide toxicity and in the rare fatal disease Ethylmalonic Encephalopathy (EE). ...To address this issue and to elicit how ETHE1 dysfunction results in EE, we have investigated two such pathologica …
Mutations in ETHE1 causing loss of function result in sulfide toxicity and in the rare fatal disease Ethylmalonic Encephalo …
Mitochondrial Dysfunction and Redox Homeostasis Impairment as Pathomechanisms of Brain Damage in Ethylmalonic Encephalopathy: Insights from Animal and Human Studies.
Grings M, Wajner M, Leipnitz G. Grings M, et al. Cell Mol Neurobiol. 2022 Apr;42(3):565-575. doi: 10.1007/s10571-020-00976-2. Epub 2020 Oct 9. Cell Mol Neurobiol. 2022. PMID: 33034777 Free PMC article. Review.
Ethylmalonic encephalopathy (EE) is a severe intoxication disorder caused by mutations in the ETHE1 gene that encodes a mitochondrial sulfur dioxygenase involved in the catabolism of hydrogen sulfide. ...
Ethylmalonic encephalopathy (EE) is a severe intoxication disorder caused by mutations in the ETHE1 gene that encodes a …
ETHE1 Accelerates Triple-Negative Breast Cancer Metastasis by Activating GCN2/eIF2alpha/ATF4 Signaling.
Yang SY, Liao L, Hu SY, Deng L, Andriani L, Zhang TM, Zhang YL, Ma XY, Zhang FL, Liu YY, Li DQ. Yang SY, et al. Int J Mol Sci. 2023 Sep 26;24(19):14566. doi: 10.3390/ijms241914566. Int J Mol Sci. 2023. PMID: 37834012 Free PMC article.
Therefore, it is important to explore the mechanism of TNBC metastasis and identify its therapeutic targets. Dysregulation of ETHE1 leads to ethylmalonic encephalopathy in humans; however, the role of ETHE1 in TNBC remains elusive. Stable cell lines wi …
Therefore, it is important to explore the mechanism of TNBC metastasis and identify its therapeutic targets. Dysregulation of ETHE1 l …
ETHE1 mutations are specific to ethylmalonic encephalopathy.
Tiranti V, Briem E, Lamantea E, Mineri R, Papaleo E, De Gioia L, Forlani F, Rinaldo P, Dickson P, Abu-Libdeh B, Cindro-Heberle L, Owaidha M, Jack RM, Christensen E, Burlina A, Zeviani M. Tiranti V, et al. J Med Genet. 2006 Apr;43(4):340-6. doi: 10.1136/jmg.2005.036210. Epub 2005 Sep 23. J Med Genet. 2006. PMID: 16183799 Free PMC article.
Mutations in ETHE1, a gene located at chromosome 19q13, have recently been identified in patients affected by ethylmalonic encephalopathy (EE). ...Frameshift, stop, splice site, and missense mutations of ETHE1 were detected in all the typical EE patien …
Mutations in ETHE1, a gene located at chromosome 19q13, have recently been identified in patients affected by ethylmalonic …
An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant.
Kashima DT, Sloan-Heggen CM, Gottlieb-Smith RJ, Barone Pritchard A. Kashima DT, et al. Am J Med Genet A. 2023 Jun;191(6):1614-1618. doi: 10.1002/ajmg.a.63176. Epub 2023 Mar 9. Am J Med Genet A. 2023. PMID: 36891747 Free article.
Ethylmalonic encephalopathy (EE) is a rare, severe, autosomal recessive condition caused by pathogenic variants in ETHE1 leading to progressive encephalopathy, hypotonia evolving to dystonia, petechiae, orthostatic acrocyanosis, diarrhea, and elevated ethylma …
Ethylmalonic encephalopathy (EE) is a rare, severe, autosomal recessive condition caused by pathogenic variants in ETHE1 …
97 results