PABPN1: Difference between revisions

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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Polyadenylate-binding protein 2''' (PABP-2) also known as '''polyadenylate-binding nuclear protein 1''' (PABPN1) is a [[protein]] that in humans is encoded by the ''PABPN1'' [[gene]].<ref name="pmid7795598">{{cite journal | vauthors = Brais B, Xie YG, Sanson M, Morgan K, Weissenbach J, Korczyn AD, Blumen SC, Fardeau M, Tomé FM, Bouchard JP | title = The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13 | journal = Hum Mol Genet | volume = 4 | issue = 3 | pages = 429–34 | date = Aug 1995 | pmid = 7795598 | pmc =  | doi = 10.1093/hmg/4.3.429 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PABPN1 poly(A) binding protein, nuclear 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8106| 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. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Poly(A) binding protein, nuclear 1
| HGNCid = 8565
| Symbol = PABPN1
| AltSymbols =; OPMD; PAB2; PABP2
| OMIM = 602279
| ECnumber = 
| Homologene = 3412
| MGIid = 1859158
| GeneAtlas_image1 = PBB_GE_PABPN1_201544_x_at_tn.png
| GeneAtlas_image2 = PBB_GE_PABPN1_201545_s_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0003723 |text = RNA binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006397 |text = mRNA processing}} {{GNF_GO|id=GO:0006936 |text = muscle contraction}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 8106
    | Hs_Ensembl = ENSG00000100836
    | Hs_RefseqProtein = NP_004634
    | Hs_RefseqmRNA = NM_004643
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 14
    | Hs_GenLoc_start = 22859337
    | Hs_GenLoc_end = 22865202
    | Hs_Uniprot = Q86U42
    | Mm_EntrezGene = 54196
    | Mm_Ensembl = ENSMUSG00000022198
    | Mm_RefseqmRNA = NM_019402
    | Mm_RefseqProtein = NP_062275
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 14
    | Mm_GenLoc_start = 53848359
    | Mm_GenLoc_end = 53852324
    | Mm_Uniprot = Q8CCS6
  }}
}}
'''Poly(A) binding protein, nuclear 1''', also known as '''PABPN1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PABPN1 poly(A) binding protein, nuclear 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8106| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails on the 3' ends of eukaryotic genes and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. An expansion of the  trinucleotide (GCN) repeat from normal 10 to 11-17 at the 5' end of the coding region of this gene leads to autosomal dominant [[oculopharyngeal muscular dystrophy]] (OPMD) disease.<ref>{{cite journal | vauthors = Brais B | title = Oculopharyngeal muscular dystrophy: a polyalanine myopathy. | journal = Current Neurology and Neuroscience Reports | volume = 9 | issue = 1 | pages = 76–82 | date = January 2009 | pmid = 19080757 | doi = 10.1007/s11910-009-0012-y }}</ref> Multiple splice variants have been described but their full-length nature is not known. One splice variant includes introns 1 and 6 but no protein is formed.<ref name="entrez"/>
{{PBB_Summary
| section_title =
| summary_text = This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails on the 3' ends of eukaryotic genes and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. An expansion of the  trinucleotide (GCG) repeat from normal 6 to 8-13 at the 5' end of the coding region of this gene leads to autosomal dominant [[oculopharyngeal muscular dystrophy]] (OPMD) disease. Multiple splice variants have been described but their full-length nature is not known. One splice variant includes introns 1 and 6 but no protein is formed.<ref name="entrez">{{cite web | title = Entrez Gene: PABPN1 poly(A) binding protein, nuclear 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8106| accessdate = }}</ref>
}}


==References==
== Interactions ==
{{reflist|2}}
PABPN1 has been shown to [[Protein-protein interaction|interact]] with [[SNW1]].<ref name=pmid11371506>{{cite journal | vauthors = Kim YJ, Noguchi S, Hayashi YK, Tsukahara T, Shimizu T, Arahata K | title = The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression | language =  | journal = Hum. Mol. Genet. | volume = 10 | issue = 11 | pages = 1129–39 | date = May 2001 | pmid = 11371506 | doi = 10.1093/hmg/10.11.1129 | url = | authorlink = | laysummary = | oclc =  | id =  | bibcode =  | accessdate =  | location = England | laydate =  | format =  | quote =  | publisher =  | issn = 0964-6906 | laysource =  }}</ref>
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal  | author=Brais B, Xie YG, Sanson M, ''et al.'' |title=The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13. |journal=Hum. Mol. Genet. |volume=4 |issue= 3 |pages= 429-34 |year= 1995 |pmid= 7795598 |doi=  }}
*{{cite journal  | author=Brais B, Bouchard JP, Xie YG, ''et al.'' |title=Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. |journal=Nat. Genet. |volume=18 |issue= 2 |pages= 164-7 |year= 1998 |pmid= 9462747 |doi= 10.1038/ng0298-164 }}
*{{cite journal  | author=Chen Z, Li Y, Krug RM |title=Influenza A virus NS1 protein targets poly(A)-binding protein II of the cellular 3'-end processing machinery. |journal=EMBO J. |volume=18 |issue= 8 |pages= 2273-83 |year= 1999 |pmid= 10205180 |doi= 10.1093/emboj/18.8.2273 }}
*{{cite journal  | author=Smith JJ, Rücknagel KP, Schierhorn A, ''et al.'' |title=Unusual sites of arginine methylation in Poly(A)-binding protein II and in vitro methylation by protein arginine methyltransferases PRMT1 and PRMT3. |journal=J. Biol. Chem. |volume=274 |issue= 19 |pages= 13229-34 |year= 1999 |pmid= 10224081 |doi=  }}
*{{cite journal  | author=Hoshino S, Imai M, Kobayashi T, ''et al.'' |title=The eukaryotic polypeptide chain releasing factor (eRF3/GSPT) carrying the translation termination signal to the 3'-Poly(A) tail of mRNA. Direct association of erf3/GSPT with polyadenylate-binding protein. |journal=J. Biol. Chem. |volume=274 |issue= 24 |pages= 16677-80 |year= 1999 |pmid= 10358005 |doi=  }}
*{{cite journal  | author=Féral C, Mattéi MG, Pawlak A, Guellaën G |title=Chromosomal localization of three human poly(A)-binding protein genes and four related pseudogenes. |journal=Hum. Genet. |volume=105 |issue= 4 |pages= 347-53 |year= 1999 |pmid= 10543404 |doi=  }}
*{{cite journal  | author=Calado A, Kutay U, Kühn U, ''et al.'' |title=Deciphering the cellular pathway for transport of poly(A)-binding protein II. |journal=RNA |volume=6 |issue= 2 |pages= 245-56 |year= 2000 |pmid= 10688363 |doi=  }}
*{{cite journal  | author=Calado A, Tomé FM, Brais B, ''et al.'' |title=Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA. |journal=Hum. Mol. Genet. |volume=9 |issue= 15 |pages= 2321-8 |year= 2001 |pmid= 11001936 |doi=  }}
*{{cite journal | author=Kim YJ, Noguchi S, Hayashi YK, ''et al.'' |title=The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression. |journal=Hum. Mol. Genet. |volume=10 |issue= 11 |pages= 1129-39 |year= 2001 |pmid= 11371506 |doi= }}
*{{cite journal  | author=Fan X, Dion P, Laganiere J, ''et al.'' |title=Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death. |journal=Hum. Mol. Genet. |volume=10 |issue= 21 |pages= 2341-51 |year= 2002 |pmid= 11689481 |doi= }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal | author=van der Sluijs BM, van Engelen BG, Hoefsloot LH |title=Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene. |journal=Hum. Mutat. |volume=21 |issue= 5 |pages= 553 |year= 2003 |pmid= 12673802 |doi= 10.1002/humu.9138 }}
*{{cite journal | author=Fan X, Messaed C, Dion P, ''et al.'' |title=HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy. |journal=The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques |volume=30 |issue= 3 |pages= 244-51 |year= 2003 |pmid= 12945950 |doi=  }}
*{{cite journal  | author=Sugaya K, Matsubara S, Miyamoto K, ''et al.'' |title=An aggregate-prone conformational epitope in trinucleotide repeat diseases. |journal=Neuroreport |volume=14 |issue= 18 |pages= 2331-5 |year= 2004 |pmid= 14663186 |doi= 10.1097/01.wnr.0000089568.45990.3d }}
*{{cite journal | author=Villacé P, Marión RM, Ortín J |title=The composition of Staufen-containing RNA granules from human cells indicates their role in the regulated transport and translation of messenger RNAs. |journal=Nucleic Acids Res. |volume=32 |issue= 8 |pages= 2411-20 |year= 2004 |pmid= 15121898 |doi= 10.1093/nar/gkh552 }}
*{{cite journal | author=Dettwiler S, Aringhieri C, Cardinale S, ''et al.'' |title=Distinct sequence motifs within the 68-kDa subunit of cleavage factor Im mediate RNA binding, protein-protein interactions, and subcellular localization. |journal=J. Biol. Chem. |volume=279 |issue= 34 |pages= 35788-97 |year= 2005 |pmid= 15169763 |doi= 10.1074/jbc.M403927200 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal | author=Rodríguez M, Camejo C, Bertoni B, ''et al.'' |title=(GCG)11 founder mutation in the PABPN1 gene of OPMD Uruguayan families. |journal=Neuromuscul. Disord. |volume=15 |issue= 2 |pages= 185-90 |year= 2005 |pmid= 15694141 |doi= 10.1016/j.nmd.2004.10.012 }}
*{{cite journal | author=Goh KJ, Wong KT, Nishino I, ''et al.'' |title=Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman. |journal=Neuromuscul. Disord. |volume=15 |issue= 3 |pages= 262-4 |year= 2005 |pmid= 15725589 |doi= 10.1016/j.nmd.2004.10.016 }}
*{{cite journal  | author=Dion P, Shanmugam V, Gaspar C, ''et al.'' |title=Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice. |journal=Neurobiol. Dis. |volume=18 |issue= 3 |pages= 528-36 |year= 2005 |pmid= 15755680 |doi= 10.1016/j.nbd.2004.09.021 }}
}}
{{refend}}


{{protein-stub}}
== References ==
{{WikiDoc Sources}}
{{Reflist}}
 
== Further reading ==
{{Refbegin | 2}}
* {{cite journal | vauthors = Brais B, Bouchard JP, Xie YG, Rochefort DL, Chrétien N, Tomé FM, Lafrenière RG, Rommens JM, Uyama E, Nohira O, Blumen S, Korczyn AD, Heutink P, Mathieu J, Duranceau A, Codère F, Fardeau M, Rouleau GA, Korcyn AD | title = Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy | journal = Nat. Genet. | volume = 18 | issue = 2 | pages = 164–7 | year = 1998 | pmid = 9462747 | doi = 10.1038/ng0298-164 }}
* {{cite journal | vauthors = Chen Z, Li Y, Krug RM | title = Influenza A virus NS1 protein targets poly(A)-binding protein II of the cellular 3'-end processing machinery | journal = EMBO J. | volume = 18 | issue = 8 | pages = 2273–83 | year = 1999 | pmid = 10205180 | pmc = 1171310 | doi = 10.1093/emboj/18.8.2273 }}
* {{cite journal | vauthors = Smith JJ, Rücknagel KP, Schierhorn A, Tang J, Nemeth A, Linder M, Herschman HR, Wahle E | title = Unusual sites of arginine methylation in Poly(A)-binding protein II and in vitro methylation by protein arginine methyltransferases PRMT1 and PRMT3 | journal = J. Biol. Chem. | volume = 274 | issue = 19 | pages = 13229–34 | year = 1999 | pmid = 10224081 | doi = 10.1074/jbc.274.19.13229 }}
* {{cite journal | vauthors = Hoshino S, Imai M, Kobayashi T, Uchida N, Katada T | title = The eukaryotic polypeptide chain releasing factor (eRF3/GSPT) carrying the translation termination signal to the 3'-Poly(A) tail of mRNA. Direct association of erf3/GSPT with polyadenylate-binding protein | journal = J. Biol. Chem. | volume = 274 | issue = 24 | pages = 16677–80 | year = 1999 | pmid = 10358005 | doi = 10.1074/jbc.274.24.16677 }}
* {{cite journal | vauthors = Féral C, Mattéi MG, Pawlak A, Guellaën G | title = Chromosomal localization of three human poly(A)-binding protein genes and four related pseudogenes | journal = Hum. Genet. | volume = 105 | issue = 4 | pages = 347–53 | year = 1999 | pmid = 10543404 | pmc = 1865476 | doi = 10.1007/s004390051113 }}
* {{cite journal | vauthors = Calado A, Kutay U, Kühn U, Wahle E, Carmo-Fonseca M | title = Deciphering the cellular pathway for transport of poly(A)-binding protein II | journal = RNA | volume = 6 | issue = 2 | pages = 245–56 | year = 2000 | pmid = 10688363 | pmc = 1369910 | doi = 10.1017/S1355838200991908 }}
* {{cite journal | vauthors = Calado A, Tomé FM, Brais B, Rouleau GA, Kühn U, Wahle E, Carmo-Fonseca M | title = Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA | journal = Hum. Mol. Genet. | volume = 9 | issue = 15 | pages = 2321–8 | year = 2001 | pmid = 11001936 | doi = 10.1093/oxfordjournals.hmg.a018924 }}
* {{cite journal | vauthors = Kim YJ, Noguchi S, Hayashi YK, Tsukahara T, Shimizu T, Arahata K | title = The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression | journal = Hum. Mol. Genet. | volume = 10 | issue = 11 | pages = 1129–39 | year = 2001 | pmid = 11371506 | doi = 10.1093/hmg/10.11.1129 }}
* {{cite journal | vauthors = Fan X, Dion P, Laganiere J, Brais B, Rouleau GA | title = Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death | journal = Hum. Mol. Genet. | volume = 10 | issue = 21 | pages = 2341–51 | year = 2002 | pmid = 11689481 | doi = 10.1093/hmg/10.21.2341 }}
* {{cite journal | vauthors = van der Sluijs BM, van Engelen BG, Hoefsloot LH | title = Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene | journal = Hum. Mutat. | volume = 21 | issue = 5 | pages = 553 | year = 2003 | pmid = 12673802 | doi = 10.1002/humu.9138 }}
* {{cite journal | vauthors = Fan X, Messaed C, Dion P, Laganiere J, Brais B, Karpati G, Rouleau GA | title = HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy | journal = The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques | volume = 30 | issue = 3 | pages = 244–51 | year = 2003 | pmid = 12945950 | doi =  10.1017/s0317167100002675}}
* {{cite journal | vauthors = Sugaya K, Matsubara S, Miyamoto K, Kawata A, Hayashi H | title = An aggregate-prone conformational epitope in trinucleotide repeat diseases | journal = NeuroReport | volume = 14 | issue = 18 | pages = 2331–5 | year = 2004 | pmid = 14663186 | doi = 10.1097/01.wnr.0000089568.45990.3d }}
* {{cite journal | vauthors = Villacé P, Marión RM, Ortín J | title = The composition of Staufen-containing RNA granules from human cells indicates their role in the regulated transport and translation of messenger RNAs | journal = Nucleic Acids Res. | volume = 32 | issue = 8 | pages = 2411–20 | year = 2004 | pmid = 15121898 | pmc = 419443 | doi = 10.1093/nar/gkh552 }}
* {{cite journal | vauthors = Dettwiler S, Aringhieri C, Cardinale S, Keller W, Barabino SM | title = Distinct sequence motifs within the 68-kDa subunit of cleavage factor Im mediate RNA binding, protein-protein interactions, and subcellular localization | journal = J. Biol. Chem. | volume = 279 | issue = 34 | pages = 35788–97 | year = 2005 | pmid = 15169763 | doi = 10.1074/jbc.M403927200 }}
* {{cite journal | vauthors = Rodríguez M, Camejo C, Bertoni B, Braida C, Rodríguez MM, Brais B, Medici M, Roche L | title = (GCG)11 founder mutation in the PABPN1 gene of OPMD Uruguayan families | journal = Neuromuscul. Disord. | volume = 15 | issue = 2 | pages = 185–90 | year = 2005 | pmid = 15694141 | doi = 10.1016/j.nmd.2004.10.012 }}
* {{cite journal | vauthors = Goh KJ, Wong KT, Nishino I, Minami N, Nonaka I | title = Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman | journal = Neuromuscul. Disord. | volume = 15 | issue = 3 | pages = 262–4 | year = 2005 | pmid = 15725589 | doi = 10.1016/j.nmd.2004.10.016 }}
* {{cite journal | vauthors = Dion P, Shanmugam V, Gaspar C, Messaed C, Meijer I, Toulouse A, Laganiere J, Roussel J, Rochefort D, Laganiere S, Allen C, Karpati G, Bouchard JP, Brais B, Rouleau GA | title = Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice | journal = Neurobiol. Dis. | volume = 18 | issue = 3 | pages = 528–36 | year = 2005 | pmid = 15755680 | doi = 10.1016/j.nbd.2004.09.021 }}
{{Refend}}
 
== External links ==
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=opmd  GeneReviews/NCBI/NIH/UW entry on Oculopharyngeal Muscular Dystrophy]
 
{{Post transcriptional modification}}
 
 
{{gene-14-stub}}

Latest revision as of 03:41, 26 November 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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

Polyadenylate-binding protein 2 (PABP-2) also known as polyadenylate-binding nuclear protein 1 (PABPN1) is a protein that in humans is encoded by the PABPN1 gene.[1][2]

Function

This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails on the 3' ends of eukaryotic genes and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. An expansion of the trinucleotide (GCN) repeat from normal 10 to 11-17 at the 5' end of the coding region of this gene leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease.[3] Multiple splice variants have been described but their full-length nature is not known. One splice variant includes introns 1 and 6 but no protein is formed.[2]

Interactions

PABPN1 has been shown to interact with SNW1.[4]

References

  1. ↑ Brais B, Xie YG, Sanson M, Morgan K, Weissenbach J, Korczyn AD, Blumen SC, Fardeau M, Tomé FM, Bouchard JP (Aug 1995). "The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13". Hum Mol Genet. 4 (3): 429–34. doi:10.1093/hmg/4.3.429. PMID 7795598.
  2. ↑ 2.0 2.1 "Entrez Gene: PABPN1 poly(A) binding protein, nuclear 1".
  3. ↑ Brais B (January 2009). "Oculopharyngeal muscular dystrophy: a polyalanine myopathy". Current Neurology and Neuroscience Reports. 9 (1): 76–82. doi:10.1007/s11910-009-0012-y. PMID 19080757.
  4. ↑ Kim YJ, Noguchi S, Hayashi YK, Tsukahara T, Shimizu T, Arahata K (May 2001). "The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression". Hum. Mol. Genet. England. 10 (11): 1129–39. doi:10.1093/hmg/10.11.1129. ISSN 0964-6906. PMID 11371506.

Further reading

External links


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