| Base editing repairs an SGCA mutation in human primary muscle stem cells. | Base editing repairs an SGCA mutation in human primary muscle stem cells.
Escobar H, Krause A, Keiper S, Kieshauer J, Müthel S, de Paredes MG, Metzler E, Kühn R, Heyd F, Spuler S., Free PMC Article | 02/19/2022 |
| This study showed three Sarcoglycanopathies caused by mutations in SGCA genes. | Milder forms of α-sarcoglicanopathies diagnosed in adulthood by NGS analysis.
Cantero D, Hernández-Laín A, Martínez JFG, Pérez MR, Ruano Y, Lleixà C, Gallardo E, Domínguez-González C. | 07/20/2019 |
| Pathogenic mutations were found in SGCA from Egyptian families with limb-girdle muscular dystrophy. | Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.
Reddy HM, Hamed SA, Lek M, Mitsuhashi S, Estrella E, Jones MD, Mahoney LJ, Duncan AR, Cho KA, Macarthur DG, Kunkel LM, Kang PB., Free PMC Article | 07/8/2017 |
| IN TMD patients, a locus near the sarcoglycan alpha ( SGCA), rs4794106, was suggestive in the discovery analysis ( P = 2.6 x 10(6)) and replicated (i.e., 1-tailed P = 0.016) in the Brazilian cohort. | GWAS Identifies New Loci for Painful Temporomandibular Disorder: Hispanic Community Health Study/Study of Latinos.
Sanders AE, Jain D, Sofer T, Kerr KF, Laurie CC, Shaffer JR, Marazita ML, Kaste LM, Slade GD, Fillingim RB, Ohrbach R, Maixner W, Kocher T, Bernhardt O, Teumer A, Schwahn C, Sipilä K, Lähdesmäki R, Männikkö M, Pesonen P, Järvelin M, Rizzatti-Barbosa CM, Meloto CB, Ribeiro-Dasilva M, Diatchenko L, Serrano P, Smith SB., Free PMC Article | 06/3/2017 |
| The results suggest that the carrier rate of c.101G>T in SGCA may be high in Taiwan, especially in the aboriginal population regardless of the tribes. | Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan.
Liang WC, Chou PC, Hung CC, Su YN, Kan TM, Chen WZ, Hayashi YK, Nishino I, Jong YJ. | 12/17/2016 |
| B4GAT1 is involved in the initiation of the LARGE-dependent repeating disaccharide that is necessary for extracellular matrix protein binding to O-mannosylated alpha-dystroglycan. | B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan.
Praissman JL, Live DH, Wang S, Ramiah A, Chinoy ZS, Boons GJ, Moremen KW, Wells L., Free PMC Article | 04/16/2016 |
| Results show that HRD1 and RFP2 contributes are required for the disposal of V247M alpha-sarcoglycan mutant. | Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D.
Bianchini E, Fanin M, Mamchaoui K, Betto R, Sandonà D., Free PMC Article | 02/14/2015 |
| 2 members of a Spanish family with muscular dystrophy had a new missense mutation c409G>A, p.Glu137Lys in exon 5 of the alpha-sarcoglycan gene, as well as a paternal c739G>A, p.Val24Met mutation inexon 6. | [A novel missense mutation in the alpha-sarcoglycan gene in a Spanish family with muscular dystrophy].
Pinel-González A, Montero-Escribano P, Aladro Y, Gil-Fournier B, Ramiro-León S. | 01/4/2014 |
| DNA analysis demonstrated homozygosity for a point mutation (574C>T) in the alpha-sarcoglycan gene. | The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation.
Babameto-Laku A, Tabaku M, Tashko V, Cikuli M, Mokini V. | 03/10/2012 |
| E-cadherin,alpha-dystroglycan and beta-dystroglycan levels were decreased in the oesophageal primary tumour samples, despite the presence of normal levels of dystroglycan mRNA. | Loss of dystroglycan function in oesophageal cancer.
Parberry-Clark C, Bury JP, Cross SS, Winder SJ. | 01/7/2012 |
| This study reported recessive founder LGMD2D for the Magdalen Islands, an archipelago settled in the XIXth century, largely by Acadian immigrants. | Founder mutation for α-sarcoglycan-LGMD2D in a Magdalen Islands Acadian cluster.
Tétreault M, Srour M, Allyson J, Thiffault I, Loisel L, Robitaille Y, Bouchard JP, Brais B. | 11/19/2011 |
| Reduced expression of laminin-binding glycans on alpha-DG may contribute to formation of highly infiltrative behavior of prostate carcinoma cells. | Reduced glycosylation of α-dystroglycans on carcinoma cells contributes to formation of highly infiltrative histological patterns in prostate cancer.
Shimojo H, Kobayashi M, Kamigaito T, Shimojo Y, Fukuda M, Nakayama J., Free PMC Article | 08/13/2011 |
| Peptide sequences in alpha-DG are substrates for protein-O-mannose N-acetylglucosaminyltransferase 1 (POMGnT1), demonstrated when a library of mannopeptides is generated which corresponds to sequences of the mucin-like stem region of alpha-DG. | Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.
Voglmeir J, Kaloo S, Laurent N, Meloni MM, Bohlmann L, Wilson IB, Flitsch SL., Free PMC Article | 07/23/2011 |
| Long-term, sustainable gene expression of alpha-sarcoglycan was observed following gene transfer mediated by AAV. | Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D.
Mendell JR, Rodino-Klapac LR, Rosales XQ, Coley BD, Galloway G, Lewis S, Malik V, Shilling C, Byrne BJ, Conlon T, Campbell KJ, Bremer WG, Taylor LE, Flanigan KM, Gastier-Foster JM, Astbury C, Kota J, Sahenk Z, Walker CM, Clark KR., Free PMC Article | 12/4/2010 |
| Absence of members of the dystrophin-associated glycoprotein complex constitutes a permissive environment for spontaneous development of embryonal rhabdomyosarcoma associated with mutation of p53 and mutation or altered splicing of Mdm2. | Mice lacking dystrophin or alpha sarcoglycan spontaneously develop embryonal rhabdomyosarcoma with cancer-associated p53 mutations and alternatively spliced or mutant Mdm2 transcripts.
Fernandez K, Serinagaoglu Y, Hammond S, Martin LT, Martin PT., Free PMC Article | 03/22/2010 |
| The limb-girdle muscular dystrophy patients with alpha-sarcoglycan deficient LGMD2D 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 |
| identified a negative regulatory element in the alpha-SG distal promoter including two conserved E-boxes (E1 and E2), which interact with MyoD | Identification of two E-boxes that negatively modulate the activity of MyoD on the alpha-sarcoglycan core promoter.
Delgado-Olguín P, Hernández-Hernández JM, Salamanca F, Recillas-Targa F, Coral-Vázquez RM. | 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 |
| Two adult brothers with a mild form of LGMD2D, compound heterozygous for two missense mutations of the SGCA gene (Arg77Cys, Val247Met), presented with respiratory insufficiency while they were still ambulatory. | Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood.
Walter MC, Dekomien G, Schlotter-Weigel B, Reilich P, Pongratz D, Müller-Felber W, Epplen JT, Huebner A, Lochmüller H. | 01/21/2010 |