Ask about this productRelated genes to: SGCG antibody
- Gene:
- SGCG NIH gene
- Name:
- sarcoglycan gamma
- Previous symbol:
- DMDA1, MAM, LGMD2C
- Synonyms:
- SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048
- Chromosome:
- 13q12.12
- Locus Type:
- gene with protein product
- Date approved:
- 1997-07-22
- Date modifiied:
- 2019-04-23
Related products to: SGCG antibody
Related articles to: SGCG antibody
- Muscular dystrophies (MDs) are a heterogeneous group of inherited neuromuscular disorders. In Morocco, where consanguinity is common, recurrent variants have been reported; however, the overall molecular landscape remains underexplored. - Source: PubMed
Rahmuni YasminaRatbi IlhamLyahyai JaberJaouad Imane CherkaouiBatta OuraynaSbiti AzizaSahli MaryemAskander OmarRchiad ZinebSefiani Abdelaziz - Pompe disease (PD) is a rare inherited recessive autosomal disorder caused by pathogenic nucleotide variants within the gene , encoding Acid alpha-glucosidase (GAA), the lysosomal enzyme catalyzing glycogen breakdown to glucose. - Source: PubMed
Publication date: 2026/01/29
Pushkov AleksanderChudakova DariaZhanin IlyaNikitin SergeyBasargina ElenaKuzenkova LydmilaAndreeva DariaVasil'eva MariaVasichkin SergeyGabitova AlbinaGaisina ElenaSaifullina ElenaGamzatova AminaGilvanova OlgaDudin VyacheslavErgina OlgaKurbatov SergeyNoskova ElenaOsipova ElenaTihonova OlgaFedotova EkaterinaNuzhny EvgenyChernikova ViktoriaYamshchikova AnastasiaKyzina LubovIrinina NataliaRohlenko OlgaKutkova YuliaPopkova NataliaAhunova AlsyAlexeeva AlinaMazanova NataliaSdvigova NataliyaGandaeva LeylaZharova OlgaPodkletnova TatyanaSukhozhenko AlexeyRusakova AnastasiaDemianov DmitryPakhomov AleksandrFisenko AndreySavostyanov Kirill - Gene delivery technologies based on adeno-associated virus (AAV) vectors have yielded promising results for the treatment of monogenic diseases. Preclinical studies and clinical trials have highlighted that infusing high AAV vector doses can induce cytotoxicity, resulting in the death of the patient in a few cases. In the wake of signs of cardiac symptoms in several human patients after gene transfer, we investigated the effects on the heart of systemic administration of high doses of AAV vectors expressing three different transgenes, corresponding to Duchenne muscular dystrophy, γ-sarcoglycanopathy, and fukutin-related protein deficiency. In all these cases, we observed the possibility of cardiotoxicity with high-dose injections that we related to transgene expression. Consequently, strategies reducing or preventing expression in the heart prevented the appearance of such cardiotoxicity and were also confirmed to be safe in non-human primates. Dissection of the mechanisms at stake revealed activation of stress cascades, leading to cardiomyocyte death due to protein overload or abnormal homeostasis of location or function of the specific protein. Our data highlighted a particular sensitivity of the heart to transgene expression, suggesting the importance of finely regulating the expression of transgenes in this vital organ in any gene therapy approach. - Source: PubMed
Publication date: 2025/12/24
Biquand ArianeGicquel EvelynePoupiot JeromeFaivre MarineCampuzano StephanyBourgeton TiffanyLe Brun Pierre-RomainVeron PhilippeBrureau AnthonyRichard Isabelle - Hypertrophic cardiomyopathy (HCM) is a prevalent cardiovascular disorder affecting populations worldwide, characterized by abnormal thickening of the heart muscle.(Supporting S1) The development of HCM is influenced by multiple factors, including genetic mutations, geographical conditions, lifestyle, and environmental exposures. The availability of extensive genomic datasets in public repositories provides an opportunity to identify potential genetic contributors and functional biomarkers associated with HCM. Previous studies have highlighted the pivotal role of the MYBPC3 gene in the pathogenesis of HCM. In this study, computational analyses were performed to predict gene mutations and functional biomarkers using RNA-sequencing and whole exome sequencing datasets. A total of 12 RNA-sequencing samples, comprising four healthy controls and eight HCM cases, along with 12 exome sequencing datasets, were retrieved from the Gene Expression Omnibus (GEO) database. RNA-sequencing analysis identified the top 20 differentially expressed genes associated with HCM, including MIB2, ZBTB48, MYBPC3, PRPF40B, CD27-AS1, MYH7, WDR90, KDM8, BCAM, ZSWIM9, KANK3, CCDC85A, ZNF512B, POLR3H, NUP210, PSMG4, GPLD1, GNL1, SH2D3C, and COL4A6. Among these, MYH7 exhibited the highest expression level, showing strong similarity to MYBPC3 in its association with HCM. Whole exome sequencing analysis further identified a panel of variant genes including MYBPC3, MYH6, MYH7, TNT, Titin, Desmin, ACE1, TGF-beta, Ang-2, SGCG, SGCA, DMD, and LaminA/C, all previously implicated in HCM pathophysiology. This integrative study underscores the correlation between differential gene expression patterns and clinical variants in HCM, providing valuable insights into the molecular mechanisms underlying the disease. - Source: PubMed
Publication date: 2025/11/21
Cn PrashanthaR RamachandraNm GuruprasadReddy Vaddi Damodara - Sarcoglycanopathies are rare autosomal recessive limb-girdle muscular dystrophies (LGMD R3-R6) caused by pathogenic variants in SGCA, SGCB, SGCG, or SGCD genes. They present predominantly in childhood with progressive proximal muscle weakness, frequently leading to loss of ambulation in adolescence or early adulthood, and may involve cardiac and respiratory complications. Despite their severity and multisystem impact, no internationally agreed standards of care (SoC) currently exist, contributing to diagnostic delays, inconsistent management, and inequitable access to multidisciplinary expertise. The 282nd ENMC International Workshop (Amsterdam, November 2024) convened 29 global stakeholders including clinicians, researchers, industry, and patient representatives to harmonize literature evidence with international clinical experience. Key outputs included: consensus on the clinical spectrum and diagnostic algorithm (with and without genetic testing); recommendations for multidisciplinary management covering neurology, cardiology, respiratory care, rehabilitation, and psychosocial support; and identification of outcome measures for clinical monitoring and trials. Natural history data were reviewed to define prognostic factors, and emerging therapeutic avenues including gene therapy, small-molecule correctors, and antifibrotic strategies were discussed. The workshop concluded with a mandate to develop and disseminate comprehensive, accessible SoC guidelines tailored to sarcoglycanopathies to improve care delivery and readiness for forthcoming disease-modifying therapies. - Source: PubMed
Publication date: 2025/09/05
Iammarino M AAlonso-Pérez JStojkovic TPegoraro ELowes LDíaz-Manera J