Výsledky vyhledávání - "Nesrin Gariballa"

Akademický článek

The double whammy of ER-retention and dominant-negative effects in numerous autosomal dominant diseases: significance in disease mechanisms and therapy

Autor: Nesrin Gariballa, Feda Mohamed, Sally Badawi, Bassam R. Ali

Publikováno v: Journal of Biomedical Science, Vol 31, Iss 1, Pp 1-24 (2024)

Abstract The endoplasmic reticulum (ER) employs stringent quality control mechanisms to ensure the integrity of protein folding, allowing only properly folded, processed and assembled proteins to exit the ER and reach their functional destinations. M

Externí odkaz: https://doaj.org/article/2bc3777e54c54136842c2c31e079c86f

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Akademický článek

Endoglin Wild Type and Variants Associated With Hereditary Hemorrhagic Telangiectasia Type 1 Undergo Distinct Cellular Degradation Pathways

Autor: Nesrin Gariballa, Praseetha Kizhakkedath, Nadia Akawi, Anne John, Bassam R. Ali

Publikováno v: Frontiers in Molecular Biosciences, Vol 9 (2022)

Endoglin, also known as cluster of differentiation 105 (CD105), is an auxiliary receptor in the TGFβ signaling pathway. It is predominantly expressed in endothelial cells as a component of the heterotetrameric receptor dimers comprising type I, type

Externí odkaz: https://doaj.org/article/fd704a30827e4097bf97fed751541685

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Akademický článek

Endoplasmic Reticulum Associated Protein Degradation (ERAD) in the Pathology of Diseases Related to TGFβ Signaling Pathway: Future Therapeutic Perspectives

Autor: Nesrin Gariballa, Bassam R. Ali

Publikováno v: Frontiers in Molecular Biosciences, Vol 7 (2020)

The transforming growth factor signaling pathway (TGFβ) controls a wide range of cellular activities in adulthood as well as during embryogenesis including cell growth, differentiation, apoptosis, immunological responses and other cellular functions

Externí odkaz: https://doaj.org/article/17752b0fd3434c13ab293cc9c1af6be4

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Endoglin Wild Type and Variants Associated With Hereditary Hemorrhagic Telangiectasia Type 1 Undergo Distinct Cellular Degradation Pathways

Autor: Nesrin Gariballa, Praseetha Kizhakkedath, Nadia Akawi, Anne John, Bassam R. Ali

Publikováno v: Frontiers in molecular biosciences. 9

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28e4374fee48af86031466d5dba030fb
https://pubmed.ncbi.nlm.nih.gov/35281255

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A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss

Autor: Lihadh Al-Gazali, Bassam R. Ali, Nesrin Gariballa, Anne John, Makanko Komara, Aisha M. Al-Shamsi, Afif Ben-Mahmoud

Publikováno v: American journal of medical genetics. Part A. 173(5)

Steel syndrome is an autosomal recessive disease characterized by skeletal abnormalities and dysmorphic features. The first mutation associated with this syndrome was reported in Puerto Rican children. In this study, we identified a novel homozygous

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dec04caf811fedc1b909e2b0617c949e
https://pubmed.ncbi.nlm.nih.gov/28322503

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