| Disruption of MAM integrity in mutant FUS oligodendroglial progenitors from hiPSCs. | Disruption of MAM integrity in mutant FUS oligodendroglial progenitors from hiPSCs.
Zhu Y, Burg T, Neyrinck K, Vervliet T, Nami F, Vervoort E, Ahuja K, Sassano ML, Chai YC, Tharkeshwar AK, De Smedt J, Hu H, Bultynck G, Agostinis P, Swinnen JV, Van Den Bosch L, da Costa RFM, Verfaillie C., Free PMC Article | 01/9/2024 |
| Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy. | Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy.
Pluta N, Hoffjan S, Zimmer F, Köhler C, Lücke T, Mohr J, Vorgerd M, Nguyen HHP, Atlan D, Wolf B, Zaum AK, Rost S., Free PMC Article | 11/12/2022 |
| SGCG rs679482 Associates With Weight Loss Success in Response to an Intensively Supervised Outpatient Program. | SGCG rs679482 Associates With Weight Loss Success in Response to an Intensively Supervised Outpatient Program.
Nikpay M, Lau P, Soubeyrand S, Whytock KL, Beehler K, Pileggi C, Ghosh S, Harper ME, Dent R, McPherson R. | 01/16/2021 |
| Expression, purification, and structural analysis of the full-length human integral membrane protein gamma-sarcoglycan. | Expression, purification, and structural analysis of the full-length human integral membrane protein γ-sarcoglycan.
Jamaleddine M, Harris MS, Liyanage L, Cook GA. | 12/19/2020 |
| This study showed that fifteen families were shown to carry SGCG variants in patient with early onset severe muscular dystrophy. | γ-sarcoglycan and dystrophin mutation spectrum in an Algerian cohort.
Dalichaouche I, Sifi Y, Roudaut C, Sifi K, Hamri A, Rouabah L, Abadi N, Richard I. | 08/19/2017 |
| FADH2-dependent monooxygenase (SgcE6 and SgcC) that catalyzes the hydroxylation of a PCP-tethered substrate | Crystal Structures of SgcE6 and SgcC, the Two-Component Monooxygenase That Catalyzes Hydroxylation of a Carrier Protein-Tethered Substrate during the Biosynthesis of the Enediyne Antitumor Antibiotic C-1027 in Streptomyces globisporus.
Chang CY, Lohman JR, Cao H, Tan K, Rudolf JD, Ma M, Xu W, Bingman CA, Yennamalli RM, Bigelow L, Babnigg G, Yan X, Joachimiak A, Phillips GN Jr, Shen B., Free PMC Article | 05/27/2017 |
| These results position archvillin as a mechanically sensitive component of the dystrophin complex and demonstrate that signaling defects caused by loss of gamma-SG occur both at the sarcolemma and in the nucleus. | Gamma-sarcoglycan is required for the response of archvillin to mechanical stimulation in skeletal muscle.
Spinazzola JM, Smith TC, Liu M, Luna EJ, Barton ER., Free PMC Article | 12/26/2015 |
| A report of two siblings with severe childhood onset limb-girdle muscular dystrophy type 2C supports the theory that the mutation G787A in the SGCG gene is a founder mutation. | Puerto Rican founder mutation G787A in the SGCG gene: a case report of 2 siblings with LGMD 2C.
DiCapua D, Patwa H. | 12/6/2014 |
| Molecular epidemiologic methods were used to calculate the frequency of heterozygotes for this SGCG mutation in Moroccan newborns and to estimate the prevalence of LGMD2C in the Moroccan population. | Carrier frequency of the c.525delT mutation in the SGCG gene and estimated prevalence of limb girdle muscular dystrophy type 2C among the Moroccan population.
El Kerch F, Ratbi I, Sbiti A, Laarabi FZ, Barkat A, Sefiani A., Free PMC Article | 11/29/2014 |
| Data suggest that an SNP in an intron of SGCG (rs9552911) is associated with type 2 diabetes [Genome-Wide Association Study in Sikh populations in India & Meta-Analysis] | Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.
Saxena R, Saleheen D, Been LF, Garavito ML, Braun T, Bjonnes A, Young R, Ho WK, Rasheed A, Frossard P, Sim X, Hassanali N, Radha V, Chidambaram M, Liju S, Rees SD, Ng DP, Wong TY, Yamauchi T, Hara K, Tanaka Y, Hirose H, McCarthy MI, Morris AP, DIAGRAM, MuTHER, AGEN, Basit A, Barnett AH, Katulanda P, Matthews D, Mohan V, Wander GS, Singh JR, Mehra NK, Ralhan S, Kamboh MI, Mulvihill JJ, Maegawa H, Tobe K, Maeda S, Cho YS, Tai ES, Kelly MA, Chambers JC, Kooner JS, Kadowaki T, Deloukas P, Rader DJ, Danesh J, Sanghera DK., Free PMC Article | 06/29/2013 |
| The C allele of the c.-94C>G polymorphism in delta-sarcoglycan is a risk factor for HCM, which is increased by the Amerindian component and can play an important role in the etiology and progression of disease in Mexican patients | A delta-sarcoglycan gene polymorphism as a risk factor for hypertrophic cardiomyopathy.
Ordoñez-Razo RM, Garrido-Garduño MH, Pérez-Martínez RA, Ruiz VM, Herrera-Tepatlán E, Rodríguez-Cruz M, Jiménez-Vaca AL, Minauro-Sanmiguel F, Salamanca-Gómez FA., Free PMC Article | 01/26/2013 |
| four Greek Gypsy patients with limb girdle muscular dystrophy type 2C carried the same homozygous C283Y mutation in the gamma-sarcoglycan gene | C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy.
Spengos K, Walter MC, Dekomien G, Papadopoulos K, Lochmüller H, Manta P. | 10/4/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| The relative incidence of LGMD2C among Japanese Duchenne muscular dystrophy-like patients can be calculated as 1 in 161 patients suspected to have Duchenne muscular dystrophy. | Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD.
Okizuka Y, Takeshima Y, Itoh K, Zhang Z, Awano H, Maruyama K, Kumagai T, Yagi M, Matsuo M., Free PMC Article | 05/31/2010 |
| This study, the first mutational analysis of Indian patients with sarcoglycanopathies suggests gamma SG mutations were the most common and the most prevalent mutation in the gamma SG gene was 525del.T. | Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T.
Khadilkar SV, Singh RK, Hegde M, Urtizberea A, Love DR, Chong B. | 01/21/2010 |
| The limb-girdle muscular dystrophy patients with gamma-sarcoglycan deficient LGMD2C do not enable an accurate prediction of the genotype. | Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
Klinge L, Dekomien G, Aboumousa A, Charlton R, Epplen JT, Barresi R, Bushby K, Straub V. | 01/21/2010 |
| Observational study of genotype prevalence. (HuGE Navigator) | See all PubMed (2) articles | 03/13/2008 |
| two unrelated patients of Puerto Rican descent who have identical previously undescribed homozygous E263K (G787A) missense mutations on exon 8, and a white North American child with del521T on one allele and a deletion of exon 6 on the other allele. | A novel mutation in two families with limb-girdle muscular dystrophy type 2C.
Duncan DR, Kang PB, Rabbat JC, Briggs CE, Lidov HG, Darras BT, Kunkel LM. | 01/21/2010 |
| Clinical, histologic, and immunohistochemical characteristics of three children with limb-girdle muscular dystrophy type 2C. Two novel mutations in the gamma-sarcoglycan gene were present. We found phenotypic differences in two brothers. | Novel mutations in three patients with LGMD2C with phenotypic differences.
Vermeer S, Verrips A, Willemsen MA, ter Laak HJ, Ginjaar IB, Hamel BC. | 01/21/2010 |
| Biglycan is a ligand for two members of the sarcoglycan complex and regulates their expression at discrete developmental ages. | Biglycan binds to alpha- and gamma-sarcoglycan and regulates their expression during development.
Rafii MS, Hagiwara H, Mercado ML, Seo NS, Xu T, Dugan T, Owens RT, Hook M, McQuillan DJ, Young MF, Fallon JR., Free PMC Article | 01/21/2010 |