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2024 8
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2026 2

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13 results

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Page 1
Native DGC structure rationalizes muscular dystrophy-causing mutations.
Liu S, Su T, Xia X, Zhou ZH. Liu S, et al. Nature. 2025 Jan;637(8048):1261-1271. doi: 10.1038/s41586-024-08324-w. Epub 2024 Dec 11. Nature. 2025. PMID: 39663457 Free PMC article.
An unexpected beta-helix comprising beta-, gamma- and delta-sarcoglycan forms an extracellular platform that interacts with alpha-dystroglycan, beta-dystroglycan and alpha-sarcoglycan, allowing alpha-dystroglycan to contact the extracellular matrix. In the membrane, …
An unexpected beta-helix comprising beta-, gamma- and delta-sarcoglycan forms an extracellular platform that interacts with alpha-dystroglyc …
Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco-Sjogren syndrome patients.
Faheem A, Masud R, Nasir R, Awan ZK, Nasir HA, Khan ZK, Fayyaz H, Raza SI. Faheem A, et al. Mol Biol Rep. 2024 Jul 26;51(1):853. doi: 10.1007/s11033-024-09746-5. Mol Biol Rep. 2024. PMID: 39060875
Whole exome sequencing revealed a nonsense variant [c.C574T, p.(Arg192*)] in the SGCA gene and a frameshift [c.936dupG, p.(Leu313AlaFs*39)] in the SIL1 gene in LGMD and MSS patients, respectively. ...To the best of our knowledge, this is the first study documenting SGCA …
Whole exome sequencing revealed a nonsense variant [c.C574T, p.(Arg192*)] in the SGCA gene and a frameshift [c.936dupG, p.(Leu313AlaF …
Muscle transcriptomics of alpha-sarcoglycanopathy highlights inflammatory pathways driving disease.
Amaro A, Reggiani F, Panicucci C, Petito M, Baratto S, Pintus S, Principi E, Antonini F, Del Zotto G, Vellone VG, D'Amico A, Lopergolo D, Tonin P, Malfatti E, Mongini T, Pegoraro E, Previtali SC, Rodolico C, Tasca G, Fiorillo C, Gazzerro E, Pfeffer U, Bruno C, Raffaghello L. Amaro A, et al. Brain. 2026 Apr 7;149(4):1302-1318. doi: 10.1093/brain/awaf389. Brain. 2026. PMID: 41147141
This study characterizes skeletal muscle and peripheral inflammatory signatures in 16 LGMDR3 patients and 8 unaffected individuals through bulk RNA sequencing with additional validation in Sgca-null mice. Patients were classified into mild and severe groups based on alp …
This study characterizes skeletal muscle and peripheral inflammatory signatures in 16 LGMDR3 patients and 8 unaffected individuals through b …
Low expression of SGCA promotes lung squamous cell carcinoma malignant progression.
Chen G, Mao G, Zong X, Chen X, Ting G, Lin M. Chen G, et al. Sci Rep. 2025 Jul 2;15(1):22578. doi: 10.1038/s41598-025-05312-6. Sci Rep. 2025. PMID: 40594054 Free PMC article.
This study aims to reveal that low expression of Alpha-Sarcoglycan (SGCA) promotes LUSC progression and to provide a biomarker for its diagnosis, prognosis evaluation, and targeted therapy. ...In vitro, H520 and H1703 cells with overexpressed SGCA were …
This study aims to reveal that low expression of Alpha-Sarcoglycan (SGCA) promotes LUSC progression and to provide a bi …
Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.
Bulakh M, Polyakova D, Dadali E, Rudenskaya G, Sharkova I, Markova T, Murtazina A, Demina N, Kurbatov S, Nikitina N, Udalova V, Polyakov A, Ryzhkova O. Bulakh M, et al. Gene. 2024 Nov 15;927:148680. doi: 10.1016/j.gene.2024.148680. Epub 2024 Jun 12. Gene. 2024. PMID: 38876406
The results indicated that variants in the SGCA gene were found in 71.4% of cases, with SGCB and SGCG genes each exhibiting variants in 12.2 % of patients. ...Two major variants, c.229C>T and c.271G>A, were detected within the SGCA, constituting 61.4% of all m …
The results indicated that variants in the SGCA gene were found in 71.4% of cases, with SGCB and SGCG genes each exhibiting variants …
Efficacy of Cystic Fibrosis Transmembrane Regulator Corrector C17 in Beta-Sarcoglycanopathy-Assessment of Patient's Primary Myotubes.
Scano M, Benetollo A, Dalla Barba F, Akyurek EE, Carotti M, Sacchetto R, Sandonà D. Scano M, et al. Int J Mol Sci. 2024 Dec 11;25(24):13313. doi: 10.3390/ijms252413313. Int J Mol Sci. 2024. PMID: 39769077 Free PMC article.
Here, we studied the fate of some beta-sarcoglycan (beta-SG) missense mutants, confirming that, like alpha-SG missense mutants, they are targeted for degradation through the ubiquitin-proteasome system. ...The knowledge that beta-SG with an amino acid substitution s …
Here, we studied the fate of some beta-sarcoglycan (beta-SG) missense mutants, confirming that, like alpha-SG missense mutants …
Molecular diagnosis of Alpha-sarcoglycanopathies by NGS in seven Moroccan families and report of two novel variants.
Rahmuni Y, Kadiri YE, Lyahyai J, Sefiani A, Ratbi I. Rahmuni Y, et al. Ir J Med Sci. 2024 Dec;193(6):3071-3076. doi: 10.1007/s11845-024-03792-5. Epub 2024 Aug 23. Ir J Med Sci. 2024. PMID: 39174842
BACKGROUND: Limb-girdle muscular dystrophies constitute a heterogeneous group of neuromuscular diseases, both clinically and genetically. Limb-girdle muscular dystrophy by alpha-sarcoglycan deficiency or LGMD R3 alpha-sarcoglycan-related is a subtype o …
BACKGROUND: Limb-girdle muscular dystrophies constitute a heterogeneous group of neuromuscular diseases, both clinically and genetically. Li …
Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy.
Shimazaki R, Saito Y, Awaya T, Minami N, Kurosawa R, Hosokawa M, Ohara H, Hayashi S, Takeuchi A, Hagiwara M, Hayashi YK, Noguchi S, Nishino I. Shimazaki R, et al. Orphanet J Rare Dis. 2025 Jan 4;20(1):1. doi: 10.1186/s13023-024-03521-2. Orphanet J Rare Dis. 2025. PMID: 39755676 Free PMC article.
Missense variants in SGCA were very frequent at 78.3%, while they were relatively rare in SGCB, SGCG, and SGCD at 11.1%, 18.2%, and 16.6%, respectively. We also analyzed the haplotypes of alleles carrying three variants found in multiple cases: c.229C > T in SGCA …
Missense variants in SGCA were very frequent at 78.3%, while they were relatively rare in SGCB, SGCG, and SGCD at 11.1%, 18.2%, and 1 …
Genome-Wide Association Study of Temporomandibular Disorder-Related Pain in Finnish Populations.
Leppilahti JM, Knuutila J, Pesonen P, Vuollo V, Männikkö M, Karjalainen MK, Suominen AL, Sipilä K. Leppilahti JM, et al. J Oral Rehabil. 2025 Feb;52(2):151-159. doi: 10.1111/joor.13883. Epub 2024 Oct 31. J Oral Rehabil. 2025. PMID: 39482899 Free PMC article.
Replications of the previously reported TMD risk loci (rs73460075, DMD; rs4794106, SGCA; rs73271865, SP4; rs60249166, RXP2; rs1531554, BAHCCI; rs5862730, OTUD4/SMAD1; rs10092633, SFRP1; rs34612513, SOX14/CLDN18; rs878962, TSPAN9) were also investigated. ...
Replications of the previously reported TMD risk loci (rs73460075, DMD; rs4794106, SGCA; rs73271865, SP4; rs60249166, RXP2; rs1531554 …
Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma.
Taneva A, Gresham D, Guergueltcheva V, Chamova T, Bojinova V, Gospodinova M, Katzarova M, Petkov R, Voit T, Aneva L, Asenov O, Georgieva B, Mihaylova V, Bichev S, Todorov T, Todorova A, Kalaydjieva L, Tournev I. Taneva A, et al. Genes (Basel). 2024 Aug 30;15(9):1144. doi: 10.3390/genes15091144. Genes (Basel). 2024. PMID: 39336735 Free PMC article.
Four subtypes are known: LGMDR3, LGMDR4, LGMDR5 and LGMDR6, which are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. We present the clinical variability of LGMD 2C/R5 among a genetically homogeneous group of 57 patients, belonging to 35 pedigree …
Four subtypes are known: LGMDR3, LGMDR4, LGMDR5 and LGMDR6, which are caused, respectively, by mutations in the SGCA, SGCB, SGCG and …
13 results