SGCB: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
WikiBot (talk | contribs)
Bots, Bureaucrats, bureaucrats, interwiki, nocaptcha, Administrators
57,550 edits
m Robot: Automated text replacement (-{{reflist}} +{{reflist|2}}, -<references /> +{{reflist|2}}, -{{WikiDoc Cardiology Network Infobox}} +)
 
m Bot: HTTP→HTTPS (v470)
 
Line 1: Line 1:
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Beta-sarcoglycan''' is a [[protein]] that in humans is encoded by the ''SGCB'' [[gene]].<ref name="pmid8968749">{{cite journal | vauthors = Bonnemann CG, Passos-Bueno MR, McNally EM, Vainzof M, de Sa Moreira E, Marie SK, Pavanello RC, Noguchi S, Ozawa E, Zatz M, Kunkel LM | title = Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E) | journal = Hum Mol Genet | volume = 5 | issue = 12 | pages = 1953–61 |date=Mar 1997 | pmid = 8968749 | pmc =  | doi =10.1093/hmg/5.12.1953 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6443| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
 
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
| HGNCid = 10806
| Symbol = SGCB
| AltSymbols =; A3b; LGMD2E; SGC
| OMIM = 600900
| ECnumber =
| Homologene = 195
| MGIid = 1346523
  | GeneAtlas_image1 = PBB_GE_SGCB_205120_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_SGCB_205121_at_tn.png
  | Function =
| Component = {{GNF_GO|id=GO:0005856 |text = cytoskeleton}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016012 |text = sarcoglycan complex}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0007010 |text = cytoskeleton organization and biogenesis}} {{GNF_GO|id=GO:0007517 |text = muscle development}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6443
    | Hs_Ensembl = ENSG00000163069
    | Hs_RefseqProtein = NP_000223
    | Hs_RefseqmRNA = NM_000232
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 4
    | Hs_GenLoc_start = 52581629
    | Hs_GenLoc_end = 52599222
    | Hs_Uniprot = Q16585
    | Mm_EntrezGene = 24051
    | Mm_Ensembl = ENSMUSG00000029156
    | Mm_RefseqmRNA = NM_011890
    | Mm_RefseqProtein = NP_036020
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 5
    | Mm_GenLoc_start = 73912749
    | Mm_GenLoc_end = 73926879
    | Mm_Uniprot = P82349
  }}
}}
'''Sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)''', also known as '''SGCB''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6443| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = The dystrophin-glycoprotein complex (DGC) is a multisubunit protein complex that spans the sarcolemma and provides structural linkage between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. There are 3 main subcomplexes of the DGC: the cytoplasmic proteins dystrophin (DMD; MIM 300377) and syntrophin (SNTA1; MIM 601017), the alpha- and beta-dystroglycans (see MIM 128239), and the [[sarcoglycan]]s (see, e.g., SGCA; MIM 600119) (Crosbie et al., 2000).[supplied by OMIM]<ref name="entrez">{{cite web | title = Entrez Gene: SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6443| accessdate = }}</ref>
| summary_text = The dystrophin-glycoprotein complex (DGC) is a multisubunit protein complex that spans the sarcolemma and provides structural linkage between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. There are 3 main subcomplexes of the DGC: the cytoplasmic proteins [[dystrophin]] (DMD; MIM 300377) and syntrophin (SNTA1; MIM 601017), the alpha- and beta-dystroglycans (see MIM 128239), and the [[sarcoglycan]]s (see, e.g., SGCA; MIM 600119) (Crosbie et al., 2000).[supplied by OMIM]<ref name="entrez" />
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Yoshida M, Ozawa E |title=Glycoprotein complex anchoring dystrophin to sarcolemma. |journal=J. Biochem. |volume=108 |issue= 5 |pages= 748-52 |year= 1991 |pmid= 2081733 |doi=  }}
*{{cite journal  | vauthors=Yoshida M, Ozawa E |title=Glycoprotein complex anchoring dystrophin to sarcolemma. |journal=J. Biochem. |volume=108 |issue= 5 |pages= 748–52 |year= 1991 |pmid= 2081733 |doi=  }}
*{{cite journal | author=Lim LE, Duclos F, Broux O, ''et al.'' |title=Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. |journal=Nat. Genet. |volume=11 |issue= 3 |pages= 257-65 |year= 1995 |pmid= 7581448 |doi= 10.1038/ng1195-257 }}
*{{cite journal   |vauthors=Lim LE, Duclos F, Broux O, etal |title=Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. |journal=Nat. Genet. |volume=11 |issue= 3 |pages= 257–65 |year= 1995 |pmid= 7581448 |doi= 10.1038/ng1195-257 }}
*{{cite journal | author=Bönnemann CG, Modi R, Noguchi S, ''et al.'' |title=Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. |journal=Nat. Genet. |volume=11 |issue= 3 |pages= 266-73 |year= 1995 |pmid= 7581449 |doi= 10.1038/ng1195-266 }}
*{{cite journal   |vauthors=Bönnemann CG, Modi R, Noguchi S, etal |title=Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. |journal=Nat. Genet. |volume=11 |issue= 3 |pages= 266–73 |year= 1995 |pmid= 7581449 |doi= 10.1038/ng1195-266 }}
*{{cite journal | author=Bönnemann CG, Passos-Bueno MR, McNally EM, ''et al.'' |title=Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). |journal=Hum. Mol. Genet. |volume=5 |issue= 12 |pages= 1953-61 |year= 1997 |pmid= 8968749 |doi=  }}
*{{cite journal   |vauthors=Duggan DJ, Gorospe JR, Fanin M, etal |title=Mutations in the sarcoglycan genes in patients with myopathy. |journal=N. Engl. J. Med. |volume=336 |issue= 9 |pages= 618–24 |year= 1997 |pmid= 9032047 |doi=10.1056/NEJM199702273360904 }}
*{{cite journal | author=Duggan DJ, Gorospe JR, Fanin M, ''et al.'' |title=Mutations in the sarcoglycan genes in patients with myopathy. |journal=N. Engl. J. Med. |volume=336 |issue= 9 |pages= 618-24 |year= 1997 |pmid= 9032047 |doi= }}
*{{cite journal   |vauthors=Fougerousse F, Durand M, Suel L, etal |title=Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development. |journal=Genomics |volume=48 |issue= 2 |pages= 145–56 |year= 1998 |pmid= 9521867 |doi= 10.1006/geno.1997.5160 }}
*{{cite journal | author=Fougerousse F, Durand M, Suel L, ''et al.'' |title=Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development. |journal=Genomics |volume=48 |issue= 2 |pages= 145-56 |year= 1998 |pmid= 9521867 |doi= 10.1006/geno.1997.5160 }}
*{{cite journal   |vauthors=Duclos F, Broux O, Bourg N, etal |title=Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate. |journal=Neuromuscul. Disord. |volume=8 |issue= 1 |pages= 30–8 |year= 1998 |pmid= 9565988 |doi=10.1016/S0960-8966(97)00135-1  }}
*{{cite journal | author=Duclos F, Broux O, Bourg N, ''et al.'' |title=Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate. |journal=Neuromuscul. Disord. |volume=8 |issue= 1 |pages= 30-8 |year= 1998 |pmid= 9565988 |doi=  }}
*{{cite journal   |vauthors=Bönnemann CG, Wong J, Ben Hamida C, etal |title=LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3. |journal=Neuromuscul. Disord. |volume=8 |issue= 3-4 |pages= 193–7 |year= 1998 |pmid= 9631401 |doi=10.1016/S0960-8966(98)00014-5 }}
*{{cite journal  | author=Bönnemann CG, Wong J, Ben Hamida C, ''et al.'' |title=LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3. |journal=Neuromuscul. Disord. |volume=8 |issue= 3-4 |pages= 193-7 |year= 1998 |pmid= 9631401 |doi=  }}
*{{cite journal  | vauthors=Chan YM, Bönnemann CG, Lidov HG, Kunkel LM |title=Molecular organization of sarcoglycan complex in mouse myotubes in culture. |journal=J. Cell Biol. |volume=143 |issue= 7 |pages= 2033–44 |year= 1999 |pmid= 9864373 |doi=10.1083/jcb.143.7.2033  | pmc=2175228 }}
*{{cite journal | author=Chan YM, Bönnemann CG, Lidov HG, Kunkel LM |title=Molecular organization of sarcoglycan complex in mouse myotubes in culture. |journal=J. Cell Biol. |volume=143 |issue= 7 |pages= 2033-44 |year= 1999 |pmid= 9864373 |doi=  }}
*{{cite journal   |vauthors=dos Santos MR, Jorge P, Ribeiro EM, etal |title=Noval mutation (Y184C) in exon 4 of the beta-sarcoglycan gene identified in a Portuguese patient. Mutations in brief no. 177. Online. |journal=Hum. Mutat. |volume=12 |issue= 3 |pages= 214–5 |year= 2000 |pmid= 10660328 |doi=  }}
*{{cite journal | author=dos Santos MR, Jorge P, Ribeiro EM, ''et al.'' |title=Noval mutation (Y184C) in exon 4 of the beta-sarcoglycan gene identified in a Portuguese patient. Mutations in brief no. 177. Online. |journal=Hum. Mutat. |volume=12 |issue= 3 |pages= 214-5 |year= 2000 |pmid= 10660328 |doi= }}
*{{cite journal   |vauthors=Barresi R, Di Blasi C, Negri T, etal |title=Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations. |journal=J. Med. Genet. |volume=37 |issue= 2 |pages= 102–7 |year= 2000 |pmid= 10662809 |doi=10.1136/jmg.37.2.102  | pmc=1734518  }}
*{{cite journal | author=Barresi R, Di Blasi C, Negri T, ''et al.'' |title=Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations. |journal=J. Med. Genet. |volume=37 |issue= 2 |pages= 102-7 |year= 2000 |pmid= 10662809 |doi=  }}
*{{cite journal   |vauthors=Durbeej M, Cohn RD, Hrstka RF, etal |title=Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E. |journal=Mol. Cell |volume=5 |issue= 1 |pages= 141–51 |year= 2000 |pmid= 10678176 |doi=10.1016/S1097-2765(00)80410-4 }}
*{{cite journal | author=Durbeej M, Cohn RD, Hrstka RF, ''et al.'' |title=Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E. |journal=Mol. Cell |volume=5 |issue= 1 |pages= 141-51 |year= 2000 |pmid= 10678176 |doi= }}
*{{cite journal   |vauthors=Yoshida M, Hama H, Ishikawa-Sakurai M, etal |title=Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy. |journal=Hum. Mol. Genet. |volume=9 |issue= 7 |pages= 1033–40 |year= 2000 |pmid= 10767327 |doi=10.1093/hmg/9.7.1033  }}
*{{cite journal  | author=Yoshida M, Hama H, Ishikawa-Sakurai M, ''et al.'' |title=Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy. |journal=Hum. Mol. Genet. |volume=9 |issue= 7 |pages= 1033-40 |year= 2000 |pmid= 10767327 |doi= }}
*{{cite journal  | vauthors=Fanin M, Hoffman EP, Angelini C, Pegoraro E |title=Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy. |journal=Hum. Mutat. |volume=16 |issue= 1 |pages= 13–7 |year= 2000 |pmid= 10874299 |doi= 10.1002/1098-1004(200007)16:1<13::AID-HUMU3>3.0.CO;2-V }}
*{{cite journal  | author=Fanin M, Hoffman EP, Angelini C, Pegoraro E |title=Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy. |journal=Hum. Mutat. |volume=16 |issue= 1 |pages= 13-7 |year= 2000 |pmid= 10874299 |doi= 10.1002/1098-1004(200007)16:1<13::AID-HUMU3>3.0.CO;2-V }}
*{{cite journal  | vauthors=Radojevic V, Lin S, Burgunder JM |title=Differential expression of dystrophin, utrophin, and dystrophin-associated proteins in human muscle culture. |journal=Cell Tissue Res. |volume=300 |issue= 3 |pages= 447–57 |year= 2000 |pmid= 10928275 |doi=10.1007/s004410000213  }}
*{{cite journal  | author=Radojevic V, Lin S, Burgunder JM |title=Differential expression of dystrophin, utrophin, and dystrophin-associated proteins in human muscle culture. |journal=Cell Tissue Res. |volume=300 |issue= 3 |pages= 447-57 |year= 2000 |pmid= 10928275 |doi= }}
*{{cite journal  |vauthors=Crosbie RH, Lim LE, Moore SA, etal |title=Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. |journal=Hum. Mol. Genet. |volume=9 |issue= 13 |pages= 2019–27 |year= 2000 |pmid= 10942431 |doi=10.1093/hmg/9.13.2019 }}
*{{cite journal | author=Crosbie RH, Lim LE, Moore SA, ''et al.'' |title=Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. |journal=Hum. Mol. Genet. |volume=9 |issue= 13 |pages= 2019-27 |year= 2000 |pmid= 10942431 |doi= }}
*{{cite journal   |vauthors=Barresi R, Moore SA, Stolle CA, etal |title=Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex. |journal=J. Biol. Chem. |volume=275 |issue= 49 |pages= 38554–60 |year= 2001 |pmid= 10993904 |doi= 10.1074/jbc.M007799200 }}
*{{cite journal | author=Barresi R, Moore SA, Stolle CA, ''et al.'' |title=Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex. |journal=J. Biol. Chem. |volume=275 |issue= 49 |pages= 38554-60 |year= 2001 |pmid= 10993904 |doi= 10.1074/jbc.M007799200 }}
*{{cite journal   |vauthors=Wakayama Y, Inoue M, Kojima H, etal |title=Localization of sarcoglycan, neuronal nitric oxide synthase, beta-dystroglycan, and dystrophin molecules in normal skeletal myofiber: triple immunogold labeling electron microscopy. |journal=Microsc. Res. Tech. |volume=55 |issue= 3 |pages= 154–63 |year= 2002 |pmid= 11747090 |doi= 10.1002/jemt.1166 }}
*{{cite journal  | author=Wakayama Y, Inoue M, Kojima H, ''et al.'' |title=Localization of sarcoglycan, neuronal nitric oxide synthase, beta-dystroglycan, and dystrophin molecules in normal skeletal myofiber: triple immunogold labeling electron microscopy. |journal=Microsc. Res. Tech. |volume=55 |issue= 3 |pages= 154-63 |year= 2002 |pmid= 11747090 |doi= 10.1002/jemt.1166 }}
*{{cite journal  | vauthors=Fanin M, Angelini C |title=Defective assembly of sarcoglycan complex in patients with beta-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubes. |journal=Neuropathol. Appl. Neurobiol. |volume=28 |issue= 3 |pages= 190–9 |year= 2002 |pmid= 12060343 |doi=10.1046/j.1365-2990.2002.00389.x  }}
*{{cite journal  | author=Fanin M, Angelini C |title=Defective assembly of sarcoglycan complex in patients with beta-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubes. |journal=Neuropathol. Appl. Neurobiol. |volume=28 |issue= 3 |pages= 190-9 |year= 2002 |pmid= 12060343 |doi= }}
*{{cite journal  | vauthors=Wheeler MT, Zarnegar S, McNally EM |title=Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy. |journal=Hum. Mol. Genet. |volume=11 |issue= 18 |pages= 2147–54 |year= 2003 |pmid= 12189167 |doi=10.1093/hmg/11.18.2147  }}
*{{cite journal  | author=Wheeler MT, Zarnegar S, McNally EM |title=Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy. |journal=Hum. Mol. Genet. |volume=11 |issue= 18 |pages= 2147-54 |year= 2003 |pmid= 12189167 |doi= }}
}}
}}
{{refend}}
{{refend}}


{{protein-stub}}
==External links==
{{WikiDoc Sources}}
* [[LOVD]] mutation database: [http://www.dmd.nl/nmdb2/?select_db=SGCB SGCB]
 
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
{{Muscle tissue}}
 
 
{{gene-4-stub}}

Latest revision as of 01:57, 27 October 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Beta-sarcoglycan is a protein that in humans is encoded by the SGCB gene.[1][2]

The dystrophin-glycoprotein complex (DGC) is a multisubunit protein complex that spans the sarcolemma and provides structural linkage between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. There are 3 main subcomplexes of the DGC: the cytoplasmic proteins dystrophin (DMD; MIM 300377) and syntrophin (SNTA1; MIM 601017), the alpha- and beta-dystroglycans (see MIM 128239), and the sarcoglycans (see, e.g., SGCA; MIM 600119) (Crosbie et al., 2000).[supplied by OMIM][2]

References

  1. ↑ Bonnemann CG, Passos-Bueno MR, McNally EM, Vainzof M, de Sa Moreira E, Marie SK, Pavanello RC, Noguchi S, Ozawa E, Zatz M, Kunkel LM (Mar 1997). "Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)". Hum Mol Genet. 5 (12): 1953–61. doi:10.1093/hmg/5.12.1953. PMID 8968749.
  2. ↑ 2.0 2.1 "Entrez Gene: SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)".

Further reading

  • Yoshida M, Ozawa E (1991). "Glycoprotein complex anchoring dystrophin to sarcolemma". J. Biochem. 108 (5): 748–52. PMID 2081733.
  • Lim LE, Duclos F, Broux O, et al. (1995). "Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12". Nat. Genet. 11 (3): 257–65. doi:10.1038/ng1195-257. PMID 7581448.
  • Bönnemann CG, Modi R, Noguchi S, et al. (1995). "Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex". Nat. Genet. 11 (3): 266–73. doi:10.1038/ng1195-266. PMID 7581449.
  • Duggan DJ, Gorospe JR, Fanin M, et al. (1997). "Mutations in the sarcoglycan genes in patients with myopathy". N. Engl. J. Med. 336 (9): 618–24. doi:10.1056/NEJM199702273360904. PMID 9032047.
  • Fougerousse F, Durand M, Suel L, et al. (1998). "Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development". Genomics. 48 (2): 145–56. doi:10.1006/geno.1997.5160. PMID 9521867.
  • Duclos F, Broux O, Bourg N, et al. (1998). "Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate". Neuromuscul. Disord. 8 (1): 30–8. doi:10.1016/S0960-8966(97)00135-1. PMID 9565988.
  • Bönnemann CG, Wong J, Ben Hamida C, et al. (1998). "LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3". Neuromuscul. Disord. 8 (3–4): 193–7. doi:10.1016/S0960-8966(98)00014-5. PMID 9631401.
  • Chan YM, Bönnemann CG, Lidov HG, Kunkel LM (1999). "Molecular organization of sarcoglycan complex in mouse myotubes in culture". J. Cell Biol. 143 (7): 2033–44. doi:10.1083/jcb.143.7.2033. PMC 2175228. PMID 9864373.
  • dos Santos MR, Jorge P, Ribeiro EM, et al. (2000). "Noval mutation (Y184C) in exon 4 of the beta-sarcoglycan gene identified in a Portuguese patient. Mutations in brief no. 177. Online". Hum. Mutat. 12 (3): 214–5. PMID 10660328.
  • Barresi R, Di Blasi C, Negri T, et al. (2000). "Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations". J. Med. Genet. 37 (2): 102–7. doi:10.1136/jmg.37.2.102. PMC 1734518. PMID 10662809.
  • Durbeej M, Cohn RD, Hrstka RF, et al. (2000). "Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E". Mol. Cell. 5 (1): 141–51. doi:10.1016/S1097-2765(00)80410-4. PMID 10678176.
  • Yoshida M, Hama H, Ishikawa-Sakurai M, et al. (2000). "Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy". Hum. Mol. Genet. 9 (7): 1033–40. doi:10.1093/hmg/9.7.1033. PMID 10767327.
  • Fanin M, Hoffman EP, Angelini C, Pegoraro E (2000). "Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy". Hum. Mutat. 16 (1): 13–7. doi:10.1002/1098-1004(200007)16:1<13::AID-HUMU3>3.0.CO;2-V. PMID 10874299.
  • Radojevic V, Lin S, Burgunder JM (2000). "Differential expression of dystrophin, utrophin, and dystrophin-associated proteins in human muscle culture". Cell Tissue Res. 300 (3): 447–57. doi:10.1007/s004410000213. PMID 10928275.
  • Crosbie RH, Lim LE, Moore SA, et al. (2000). "Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions". Hum. Mol. Genet. 9 (13): 2019–27. doi:10.1093/hmg/9.13.2019. PMID 10942431.
  • Barresi R, Moore SA, Stolle CA, et al. (2001). "Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex". J. Biol. Chem. 275 (49): 38554–60. doi:10.1074/jbc.M007799200. PMID 10993904.
  • Wakayama Y, Inoue M, Kojima H, et al. (2002). "Localization of sarcoglycan, neuronal nitric oxide synthase, beta-dystroglycan, and dystrophin molecules in normal skeletal myofiber: triple immunogold labeling electron microscopy". Microsc. Res. Tech. 55 (3): 154–63. doi:10.1002/jemt.1166. PMID 11747090.
  • Fanin M, Angelini C (2002). "Defective assembly of sarcoglycan complex in patients with beta-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubes". Neuropathol. Appl. Neurobiol. 28 (3): 190–9. doi:10.1046/j.1365-2990.2002.00389.x. PMID 12060343.
  • Wheeler MT, Zarnegar S, McNally EM (2003). "Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy". Hum. Mol. Genet. 11 (18): 2147–54. doi:10.1093/hmg/11.18.2147. PMID 12189167.

External links



Retrieved from "https://www.wikidoc.org/index.php?title=SGCB&oldid=1413688"