Evidence map›Paper›PMID 40519569›Full record

ArticleAdvanced biomedical research2025

New Insight into Pathogenic Variant p.L275P on the Structure and Function of Steroidogenic Acute Regulatory Protein (STAR) Through Molecular Dynamics Simulation.

Shahrzad Aghaei, Mohammad Amin Tabatabaiefar, Javad Saffari-Chaleshtori, Erfan Korram, Sara Sadeghi Amini, Maryam Aghaei, Mahbobeh Koohiyan, Zahra Ataie, Payam Samei, Effat Farrokhi

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Article in Advanced biomedical research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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10 authors.

Shahrzad AghaeiDepartment of Molecular Medicine, School of Advanced Technologies, Shahrekord University of Medical Sciences, Shahrekord, Iran.
Mohammad Amin TabatabaiefarDepartment of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Javad Saffari-ChaleshtoriClinical Biochemistry Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran.
Erfan KorramDepartment of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Sara Sadeghi AminiDepartment of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Maryam AghaeiSkin Diseases and Leishmaniasis Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
Mahbobeh KoohiyanCancer Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran.
Zahra AtaieDepartment of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Payam SameiClinical Research Development Unit, Hajar Hospital, Shahrekord University of Medical Sciences, Shahrekord, Iran.
Effat FarrokhiDepartment of Molecular Medicine, School of Advanced Technologies, Shahrekord University of Medical Sciences, Shahrekord, Iran.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Lipoid congenital adrenal hyperplasia (LCAH) is the lethal form of steroid biosynthesis defects because of mutations in the steroidogenic acute regulatory ( Materials and Methods: Ten Iranian families affected by LCAH were selected for genetic linkage analysis. The Results: Data analysis revealed a pathogenic variant, c.824T>C, (p.L275P), in the Conclusions: MD simulation provides the key structural and structural insights of the p.L275P -mediated conformational changes in STAR.

Indexed as

Genetic linkage analyseslipoid congenital adrenal hyperplasiamolecular dockingmolecular dynamicsSTAR

Identifiers

PMID40519569
PMCPMC12165299

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