MBNL1: Difference between revisions

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* {{cite journal | vauthors = Bonaldo MF, Lennon G, Soares MB | title = Normalization and subtraction: two approaches to facilitate gene discovery | journal = Genome Research | volume = 6 | issue = 9 | pages = 791–806 | date = Sep 1996 | pmid = 8889548 | doi = 10.1101/gr.6.9.791 }}
* {{cite journal | vauthors = Bonaldo MF, Lennon G, Soares MB | title = Normalization and subtraction: two approaches to facilitate gene discovery | journal = Genome Research | volume = 6 | issue = 9 | pages = 791–806 | date = Sep 1996 | pmid = 8889548 | doi = 10.1101/gr.6.9.791 }}
* {{cite journal | vauthors = Fardaei M, Larkin K, Brook JD, Hamshere MG | title = In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts | journal = Nucleic Acids Research | volume = 29 | issue = 13 | pages = 2766–71 | date = Jul 2001 | pmid = 11433021 | pmc = 55763 | doi = 10.1093/nar/29.13.2766 }}
* {{cite journal | vauthors = Fardaei M, Larkin K, Brook JD, Hamshere MG | title = In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts | journal = Nucleic Acids Research | volume = 29 | issue = 13 | pages = 2766–71 | date = Jul 2001 | pmid = 11433021 | pmc = 55763 | doi = 10.1093/nar/29.13.2766 }}
* {{cite journal | vauthors = Mankodi A, Urbinati CR, Yuan QP, Moxley RT, Sansone V, Krym M, Henderson D, Schalling M, Swanson MS, Thornton CA | title = Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2 | journal = Human Molecular Genetics | volume = 10 | issue = 19 | pages = 2165–70 | date = Sep 2001 | pmid = 11590133 | doi = 10.1093/hmg/10.19.2165 }}
* {{cite journal | vauthors = Mankodi A, Urbinati CR, Yuan QP, Moxley RT, Sansone V, Krym M, Henderson D, Schalling M, Swanson MS, Thornton CA | title = Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2 | journal = Human Molecular Genetics | volume = 10 | issue = 19 | pages = 2165–70 | date = Sep 2001 | pmid = 11590133 | doi = 10.1093/hmg/10.19.2165 | url = https://air.unimi.it/bitstream/2434/212057/1/HUM%20MOL%20GENET%20-2001-Mankodi%20A.pdf }}
* {{cite journal | vauthors = Fardaei M, Rogers MT, Thorpe HM, Larkin K, Hamshere MG, Harper PS, Brook JD | title = Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells | journal = Human Molecular Genetics | volume = 11 | issue = 7 | pages = 805–14 | date = Apr 2002 | pmid = 11929853 | doi = 10.1093/hmg/11.7.805 }}
* {{cite journal | vauthors = Fardaei M, Rogers MT, Thorpe HM, Larkin K, Hamshere MG, Harper PS, Brook JD | title = Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells | journal = Human Molecular Genetics | volume = 11 | issue = 7 | pages = 805–14 | date = Apr 2002 | pmid = 11929853 | doi = 10.1093/hmg/11.7.805 }}
* {{cite journal | vauthors = Kino Y, Mori D, Oma Y, Takeshita Y, Sasagawa N, Ishiura S | title = Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats | journal = Human Molecular Genetics | volume = 13 | issue = 5 | pages = 495–507 | date = Mar 2004 | pmid = 14722159 | doi = 10.1093/hmg/ddh056 }}
* {{cite journal | vauthors = Kino Y, Mori D, Oma Y, Takeshita Y, Sasagawa N, Ishiura S | title = Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats | journal = Human Molecular Genetics | volume = 13 | issue = 5 | pages = 495–507 | date = Mar 2004 | pmid = 14722159 | doi = 10.1093/hmg/ddh056 | citeseerx = 10.1.1.598.7921 }}
* {{cite journal | vauthors = Dansithong W, Paul S, Comai L, Reddy S | title = MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1 | journal = The Journal of Biological Chemistry | volume = 280 | issue = 7 | pages = 5773–80 | date = Feb 2005 | pmid = 15546872 | doi = 10.1074/jbc.M410781200 }}
* {{cite journal | vauthors = Dansithong W, Paul S, Comai L, Reddy S | title = MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1 | journal = The Journal of Biological Chemistry | volume = 280 | issue = 7 | pages = 5773–80 | date = Feb 2005 | pmid = 15546872 | doi = 10.1074/jbc.M410781200 }}
* {{cite journal | vauthors = Ho TH, Savkur RS, Poulos MG, Mancini MA, Swanson MS, Cooper TA | title = Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy | journal = Journal of Cell Science | volume = 118 | issue = Pt 13 | pages = 2923–33 | date = Jul 2005 | pmid = 15961406 | doi = 10.1242/jcs.02404 }}
* {{cite journal | vauthors = Ho TH, Savkur RS, Poulos MG, Mancini MA, Swanson MS, Cooper TA | title = Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy | journal = Journal of Cell Science | volume = 118 | issue = Pt 13 | pages = 2923–33 | date = Jul 2005 | pmid = 15961406 | doi = 10.1242/jcs.02404 }}
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* {{cite journal | vauthors = Monferrer L, Artero R | title = An interspecific functional complementation test in Drosophila for introductory genetics laboratory courses | journal = The Journal of Heredity | volume = 97 | issue = 1 | pages = 67–73 | year = 2006 | pmid = 16394256 | doi = 10.1093/jhered/esj003 }}
* {{cite journal | vauthors = Monferrer L, Artero R | title = An interspecific functional complementation test in Drosophila for introductory genetics laboratory courses | journal = The Journal of Heredity | volume = 97 | issue = 1 | pages = 67–73 | year = 2006 | pmid = 16394256 | doi = 10.1093/jhered/esj003 }}
* {{cite journal | vauthors = Cardani R, Mancinelli E, Rotondo G, Sansone V, Meola G | title = Muscleblind-like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2 | journal = European Journal of Histochemistry | volume = 50 | issue = 3 | pages = 177–82 | year = 2007 | pmid = 16920640 | doi =  }}
* {{cite journal | vauthors = Cardani R, Mancinelli E, Rotondo G, Sansone V, Meola G | title = Muscleblind-like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2 | journal = European Journal of Histochemistry | volume = 50 | issue = 3 | pages = 177–82 | year = 2007 | pmid = 16920640 | doi =  }}
* {{cite journal | vauthors = Paul S, Dansithong W, Kim D, Rossi J, Webster NJ, Comai L, Reddy S | title = Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing | journal = The EMBO Journal | volume = 25 | issue = 18 | pages = 4271–83 | date = Sep 2006 | pmid = 16946708 | pmc = 1570429 | doi = 10.1038/sj.emboj.7601296 }}
* {{cite journal | vauthors = Paul S, Dansithong W, Kim D, Rossi J, Webster NJ, Comai L, Reddy S | title = Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing | journal = The EMBO Journal | volume = 25 | issue = 18 | pages = 4271–83 | date = Sep 2006 | pmid = 16946708 | pmc = 1570429 | doi = 10.1038/sj.emboj.7601296 | citeseerx = 10.1.1.673.6397 }}
* {{cite journal | vauthors = Smith KP, Byron M, Johnson C, Xing Y, Lawrence JB | title = Defining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains | journal = The Journal of Cell Biology | volume = 178 | issue = 6 | pages = 951–64 | date = Sep 2007 | pmid = 17846170 | pmc = 2064620 | doi = 10.1083/jcb.200706048 }}
* {{cite journal | vauthors = Smith KP, Byron M, Johnson C, Xing Y, Lawrence JB | title = Defining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains | journal = The Journal of Cell Biology | volume = 178 | issue = 6 | pages = 951–64 | date = Sep 2007 | pmid = 17846170 | pmc = 2064620 | doi = 10.1083/jcb.200706048 }}
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Latest revision as of 14:10, 9 June 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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

Muscleblind-like (Drosophila), also known as MBNL1, is a protein that in humans is encoded by the MBNL1 gene.[1][2][3] It has been implicated in Myotonic dystrophy and has been shown to autoregulate its transcript.[4]

References

  1. Ishikawa K, Nagase T, Nakajima D, Seki N, Ohira M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Oct 1997). "Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 4 (5): 307–13. doi:10.1093/dnares/4.5.307. PMID 9455477.
  2. Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, Thornton CA, Swanson MS (Sep 2000). "Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy". The EMBO Journal. 19 (17): 4439–48. doi:10.1093/emboj/19.17.4439. PMC 302046. PMID 10970838.
  3. "Entrez Gene: MBNL1 muscleblind-like (Drosophila)".
  4. Ho TH, Charlet-B N, Poulos MG, Singh G, Swanson MS, Cooper TA (Aug 2004). "Muscleblind proteins regulate alternative splicing". The EMBO Journal. 23 (15): 3103–12. doi:10.1038/sj.emboj.7600300. PMC 514918. PMID 15257297.

Further reading