Zobrazeno 1 - 10
of 71
pro vyhledávání: '"Al‐Walid Mohsen"'
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100873- (2024)
Externí odkaz:
https://doaj.org/article/6f9c4f4f1c77463993f8d73625ad267e
Autor:
Paige Heiman, Al-Walid Mohsen, Anuradha Karunanidhi, Claudette St Croix, Simon Watkins, Erik Koppes, Richard Haas, Jerry Vockley, Lina Ghaloul-Gonzalez
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract Transport and Golgi Organization protein 2 Homolog (TANGO2)-related disease is an autosomal recessive disorder caused by mutations in the TANGO2 gene. Symptoms typically manifest in early childhood and include developmental delay, stress-ind
Externí odkaz:
https://doaj.org/article/bbd84a9f628544dc9e3cb0595985fc6f
Autor:
Rachel Wolfe, Paige Heiman, Olivia D'Annibale, Anuradha Karunanidhi, Alyssa Powers, Marianne Mcguire, Bianca Seminotti, Steven F. Dobrowolski, Miguel Reyes-Múgica, Kathryn S. Torok, Al-Walid Mohsen, Jerry Vockley, Lina Ghaloul-Gonzalez
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100932- (2022)
Autoimmune Disease, Multisystem, with Facial Dysmorphism (ADMFD) is an autosomal recessive disorder due to pathogenic variants in the ITCH gene. It is characterized by failure to thrive, dysmorphic facial features, developmental delay, and systemic a
Externí odkaz:
https://doaj.org/article/9763ee3b6cd345f3adadf389b4604dbf
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Externí odkaz:
https://doaj.org/article/758b6344be8b4744a4803820b1005be5
Autor:
Chuanwu Xia, Baoying Lou, Zhuji Fu, Al-Walid Mohsen, Anna L. Shen, Jerry Vockley, Jung-Ja P. Kim
Publikováno v:
iScience, Vol 24, Iss 10, Pp 103153- (2021)
Summary: The dual function protein ACAD9 catalyzes α,β-dehydrogenation of fatty acyl-CoA thioesters in fatty acid β-oxidation and is an essential chaperone for mitochondrial respiratory complex I (CI) assembly. ACAD9, ECSIT, and NDUFAF1 interact t
Externí odkaz:
https://doaj.org/article/9461e48e071d486eaf8a2d268bf1c0d2
Autor:
Olivia M. D’Annibale, Yu Leng Phua, Clinton Van’t Land, Anuradha Karunanidhi, Alejandro Dorenbaum, Al-Walid Mohsen, Jerry Vockley
Publikováno v:
Cells, Vol 11, Iss 17, p 2635 (2022)
Background: Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive disease that prevents the body from utilizing long-chain fatty acids for energy, most needed during stress and fasting. Symptoms can appear from infancy t
Externí odkaz:
https://doaj.org/article/7cdeef019e9f44d2ab85e37c8a9049b3
Autor:
Serena Raimo, Gabriella Zura-Miller, Hossein Fezelinia, Lynn A. Spruce, Iordanis Zakopoulos, Al-Walid Mohsen, Jerry Vockley, Harry Ischiropoulos
Publikováno v:
Redox Biology, Vol 41, Iss , Pp 101923- (2021)
Mutations in nuclear genes encoding for mitochondrial proteins very long-chain acyl-CoA dehydrogenase (VLCAD) and trifunctional protein (TFP) cause rare autosomal recessive disorders. Studies in fibroblasts derived from patients with mutations in VLC
Externí odkaz:
https://doaj.org/article/647ab3c0d1704238a86bf36bec3e1ccf
Autor:
Olivia M. D'Annibale, Erik A. Koppes, Meena Sethuraman, Kaitlyn Bloom, Al‐Walid Mohsen, Jerry Vockley
Publikováno v:
J Inherit Metab Dis
Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is an autosomal recessive disease resulting from mutations in the ACADVL gene and is among the disorders tested for in newborn screening (NBS). Confirmatory sequencing following suspected VLC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dfe31b890c56e3ce111d7e05640d4bf
https://doi.org/10.1002/jimd.12492
https://doi.org/10.1002/jimd.12492
Autor:
Anuradha Karunanidhi, Clinton Van't Land, Dhivyaa Rajasundaram, Mateus Grings, Jerry Vockley, Al‐Walid Mohsen
Publikováno v:
J Inherit Metab Dis
Inherited errors of mitochondrial fatty acid β-oxidation (FAO) are life threatening, even with optimum care. FAO is the major source of energy for heart and is critical for skeletal muscles especially during physiologic stress. Clinical trials revea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d11ee220aac23ebefa9b03457e100aca
https://doi.org/10.1002/jimd.12480
https://doi.org/10.1002/jimd.12480
