A novel biallelic variant in the Popeye domain‐containing protein 1 (<scp>POPDC1</scp>) underlies limb girdle muscle dystrophy type 25

Mahmood, Arif; Samad, Abdus; Shah, Abid Ali; Wadood, Abdul; Alkathiri, Afnan; Alshehri, Mohammed Ali; Alam, Mohammed Zubair; Hussain, Taimur; He, Pei Lan; Umair, Muhammad

doi:10.1111/cge.14238

Cited by 11 publications

(7 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…So far, nine pathogenic mutations in BVES have been reported in LGMDR25 patients, including S201F, 3 R88Ter, 4 , 40 Del56 V217-K272, 4 R143Ter, 2 S263Ter, 6 M1G, 4 Q153Ter, 7 I193S, 7 and P134L. 41 In addition, the decreased expression of BVES caused by R129W mutation in human has been linked to the Sporadic Tetralogy of Fallot, 42 , 43 the most common type of congenital heart disease. The AAV9.BVES gene therapy may offer a mutation-independent approach for the treatment of the diseases caused by BVES mutations.…”

Section: Discussionmentioning

confidence: 99%

Systemic AAV9.BVES delivery ameliorates muscular dystrophy in a mouse model of LGMDR25

Li¹,

Wang²,

Hsu³

et al. 2023

Molecular Therapy

View full text Add to dashboard Cite

Section: Discussionmentioning

confidence: 99%

Systemic AAV9.BVES delivery ameliorates muscular dystrophy in a mouse model of LGMDR25

Li¹,

Wang²,

Hsu³

et al. 2023

Molecular Therapy

View full text Add to dashboard Cite

“…The AMBER force field FF14SB was used for the protein, and the generic AMBER force field (GAFF) was used for the ligands ( Wadood et al., 2022 ). The topology files and atomic charges of ligands were generated using the Antechamber suite in the AMBER 20 package ( Mahmood et al., 2023 ). The topology and coordinate data for the entire system were generated using the tleap module of the AMBER 20 software.…”

Section: Methodsmentioning

confidence: 99%

Computer-assisted drug repurposing for thymidylate kinase drug target in monkeypox virus

Ajmal

Mahmood

Hayat

et al. 2023

Front. Cell. Infect. Microbiol.

Self Cite

View full text Add to dashboard Cite

IntroductionMonkeypox is a zoonotic disease caused by brick-shaped enveloped monkeypox (Mpox) virus that belongs to the family of ancient viruses known as Poxviridae. Subsequently, the viruses have been reported in various countries. The virus is transmitted by respiratory droplets, skin lesions, and infected body fluids. The infected patients experience fluid-filled blisters, maculopapular rash, myalgia, and fever. Due to the lack of effective drugs or vaccines, there is a need to identify the most potent and effective drugs to reduce the spread of monkeypox. The current study aimed to use computational methods to quickly identify potentially effective drugs against the Mpox virus.MethodsIn our study, the Mpox protein thymidylate kinase (A48R) was targeted because it is a unique drug target. We screened a library of 9000 FDA-approved compounds of the DrugBank database by using various in silico approaches, such as molecular docking and molecular dynamic (MD) simulation.ResultsBased on docking score and interaction analysis, compounds DB12380, DB13276, DB13276, DB11740, DB14675, DB11978, DB08526, DB06573, DB15796, DB08223, DB11736, DB16250, and DB16335 were predicted as the most potent. To examine the dynamic behavior and stability of the docked complexes, three compounds—DB16335, DB15796, and DB16250 —along with the Apo state were simulated for 300ns. The results revealed that compound DB16335 revealed the best docking score (-9.57 kcal/mol) against the Mpox protein thymidylate kinase.DiscussionAdditionally, during the 300 ns MD simulation period, thymidylate kinase DB16335 showed great stability. Further, in vitro and in vivo study is recommended for the final predicted compounds.

show abstract

“…11,18 For example, homozygous missense or a novel splice site variant in the POPDC3 causes autosomal recessive LGMD 26, 11,12 while novel variants or a novel biallelic variant in the POPDC1 underlies LGMD 25 (Table 1). 19,20 However, whether this is related to extracellular amino-terminal glycosylation abnormalities needs to be further investigated.…”

Section: The Structure Of Popdc3 Proteinmentioning

confidence: 99%

Progress on the study of Popeye domain‐containing 3 (POPDC3) in malignancies and striated muscle function and homeostasis

et al. 2023

View full text Add to dashboard Cite

The Popeye domain‐containing protein 3 (POPDC3), a transmembrane protein with a unique cyclic adenosine monophosphate (cAMP) binding site, is widely expressed in mammalian tissues, with the highest levels of expression in skeletal muscle. POPDC3 plays a key role in many physiological and pathological processes and is considered a candidate biomarker and potential therapeutic target of cancer. In addition, POPDC3 gene variants have been associated with limb‐girdle muscular dystrophy (LGMD) type 26. However, there are only a few studies on the biological role of POPDC3, interacting proteins, potential downstream targets, and regulated signaling pathways. Therefore, this review focuses on the structure of POPDC3 protein, interacting molecules, and the role and mechanism in cancer, and in cardiac and skeletal muscle, and to review the current research progress of POPDC3 and propose possible future study directions.

show abstract

A novel biallelic variant in the Popeye domain‐containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25

Cited by 11 publications

References 19 publications

Systemic AAV9.BVES delivery ameliorates muscular dystrophy in a mouse model of LGMDR25

Systemic AAV9.BVES delivery ameliorates muscular dystrophy in a mouse model of LGMDR25

Computer-assisted drug repurposing for thymidylate kinase drug target in monkeypox virus

Progress on the study of Popeye domain‐containing 3 (POPDC3) in malignancies and striated muscle function and homeostasis

Contact Info

Product

Resources

About