Zobrazeno 1 - 10
of 133
pro vyhledávání: '"Ayman W El-Hattab"'
Autor:
Michael J Xie, Gareth A Cromie, Katherine Owens, Martin S Timour, Michelle Tang, J Nathan Kutz, Ayman W El-Hattab, Richard N McLaughlin, Aimée M Dudley
Publikováno v:
PLoS Genetics, Vol 19, Iss 10, p e1010972 (2023)
Reduced activity of the enzymes encoded by PHGDH, PSAT1, and PSPH causes a set of ultrarare, autosomal recessive diseases known as serine biosynthesis defects. These diseases present in a broad phenotypic spectrum: at the severe end is Neu-Laxova syn
Externí odkaz:
https://doaj.org/article/5cbfc7893cfb45d0b000a1426ef56261
Autor:
Fatma Al Jasmi, Nuha Al Zaabi, Khalid Al-Thihli, Amal M Al Teneiji, Jozef Hertecant, Ayman W El-Hattab
Publikováno v:
Journal of Central Nervous System Disease, Vol 12 (2020)
Background: In addition to the reduced energy production, characteristic of mitochondrial disorders, nitric oxide (NO) deficiency can occur as well. The NO produced by vascular endothelial cells relaxes vascular smooth muscles, resulting in vasodilat
Externí odkaz:
https://doaj.org/article/61e111bc78bd4fd5b274a8c3c311dfeb
Autor:
Bekim Sadikovic, Jing Wang, Ayman W El-Hattab, Megan Landsverk, Ganka Douglas, Ellen K Brundage, William J Craigen, Eric S Schmitt, Lee-Jun C Wong
Publikováno v:
PLoS ONE, Vol 12, Iss 11, p e0188610 (2017)
[This corrects the article DOI: 10.1371/journal.pone.0015687.].
Externí odkaz:
https://doaj.org/article/d99ac69edea54cfc98d93b84d9ecf385
Autor:
Bekim Sadikovic, Jing Wang, Ayman W El-Hattab, Megan Landsverk, Ganka Douglas, Ellen K Brundage, William J Craigen, Eric S Schmitt, Lee-Jun C Wong
Publikováno v:
PLoS ONE, Vol 5, Iss 12, p e15687 (2010)
Mitochondrial DNA (mtDNA) deletions are a common cause of mitochondrial disorders. Large mtDNA deletions can lead to a broad spectrum of clinical features with different age of onset, ranging from mild mitochondrial myopathies (MM), progressive exter
Externí odkaz:
https://doaj.org/article/bd4b798f7b2e475b838cc488f05ed56f
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
WIPI (WD-repeat protein Interacting with PhosphoInositides) are important effectors in autophagy. These proteins bind phosphoinositides and recruit autophagy proteins. In mammals, there are four WIPI proteins: WIPI1, WIPI2, WIPI3 (WDR45B), and WIPI4
Externí odkaz:
https://doaj.org/article/01ed77a58aef4986a617b0f56f4f0588
Autor:
Michael M. Segal, Renee George, Peter Waltman, Ayman W. El-Hattab, Kiely N. James, Valentina Stanley, Joseph Gleeson
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Background In diagnosis of rare genetic diseases we face a decision as to the degree to which the sequencing lab offers one or more diagnoses based on clinical input provided by the clinician, or the clinician reaches a diagnosis based on th
Externí odkaz:
https://doaj.org/article/602ee97181f24459813280ff8f4b5023
Autor:
Shuk Ching, Chong, Ye, Cao, Eva L W, Fung, Soledad, Kleppe, Karen W, Gripp, Jozef, Hertecant, Ayman W, El-Hattab, Jehan, Suleiman, Gary, Clark, Gretchen, von Allmen, Olga, Rodziyevska, Richard A, Lewis, Jill A, Rosenfeld, Jie, Dong, Xia, Wang, Marcus J, Miller, Weimin, Bi, Pengfei, Liu, Fernando, Scaglia
Publikováno v:
American Journal of Medical Genetics Part A. 191:776-785
WWOX biallelic loss-of-function pathogenic single nucleotide variants (SNVs) and copy number variants (CNVs) including exonic deletions and duplications cause WWOX-related epileptic encephalopathy (WOREE) syndrome. This disorder is characterized by r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ccd7e7fe9b159cc8bba955b0cba515b
https://doi.org/10.1002/ajmg.a.63074
https://doi.org/10.1002/ajmg.a.63074
Publikováno v:
Molecular Genetics and Metabolism. 137:40-48
Mitochondrial DNA (mtDNA) replication depends on the mitochondrial import of hundreds of nuclear encoded proteins that control the mitochondrial genome maintenance and integrity. Defects in these processes result in an expanding group of disorders ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdb97ef58b8ea0c91206007a7b59885e
https://doi.org/10.1016/j.ymgme.2022.07.003
https://doi.org/10.1016/j.ymgme.2022.07.003
Autor:
Mode Al Ojaimi, Bashar J. Banimortada, Amna Othman, Korbinian M. Riedhammer, Mohammed Almannai, Ayman W. El‐Hattab
Publikováno v:
Clinical Genetics. 102:169-181
Epigenetic modifications of DNA and histone tails are essential for gene expression regulation. They play an essential role in neurodevelopment as nervous system development is a complex process requiring a dynamic pattern of gene expression. Histone
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cade5a2b52239e45ae1194756a63be6f
https://doi.org/10.1111/cge.14181
https://doi.org/10.1111/cge.14181
Autor:
Michael J. Xie, Gareth A. Cromie, Katherine Owens, Martin S. Timour, Michelle Tang, J. Nathan Kutz, Ayman W. El-Hattab, Richard N. McLaughlin, Aimée M. Dudley
Publikováno v:
bioRxiv
BackgroundPathogenic variants inPHGDH, PSAT1, andPSPHcause a set of rare, autosomal recessive diseases known as serine biosynthesis defects. Serine biosynthesis defects present in a broad phenotypic spectrum that includes, at the severe end, Neu–La
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6546749b6c5e1e716fc5b17b1054840d
https://doi.org/10.1101/2023.01.11.523651
https://doi.org/10.1101/2023.01.11.523651
