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Index > Protein center > DMD(Gene name) > Human
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  • DMD (Gene name),
  • Dystrophin (Protein name ),  DMD_HUMAN from NCBI database.
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  • Gene name:
    DMD;
    Protein name:
    Dystrophin;
    Alternative:

    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Interacts with SYNM (By similarity). Interacts with the syntrophins SNTA1, SNTB1, SNTB2, SNTG1 and SNTG2. Interacts with KRT19. Component of the dystrophin-associated glycoprotein complex which is composed of three subcomplexes: a cytoplasmic complex comprised of DMD (or UTRN), DTNA and a number of syntrophins, such as SNTB1, SNTB2, SNTG1 and SNTG2, the transmembrane dystroglycan complex, and the sarcoglycan-sarcospan complex. Interacts with DAG1 (betaDAG1) with DMD; the interaction is inhibited by phosphorylation on the PPXY motif of DAG1.
    Function:
    Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission.
    Subcellular Location:
    Cell membrane sarcolemma Peripheral membrane protein Cytoplasmic side Cytoplasm cytoskeleton
    Protein Attributes:
    Sequence length:
    3685
    Sequence:
    50:
    MLWWEEVEDC | YEREDVQKKT | FTKWVNAQFS | KFGKQHIENL | FSDLQDGRRL | 
    100:
    LDLLEGLTGQ | KLPKEKGSTR | VHALNNVNKA | LRVLQNNNVD | LVNIGSTDIV | 
    150:
    DGNHKLTLGL | IWNIILHWQV | KNVMKNIMAG | LQQTNSEKIL | LSWVRQSTRN | 
    200:
    YPQVNVINFT | TSWSDGLALN | ALIHSHRPDL | FDWNSVVCQQ | SATQRLEHAF | 
    250:
    NIARYQLGIE | KLLDPEDVDT | TYPDKKSILM | YITSLFQVLP | QQVSIEAIQE | 
    300:
    VEMLPRPPKV | TKEEHFQLHH | QMHYSQQITV | SLAQGYERTS | SPKPRFKSYA | 
    350:
    YTQAAYVTTS | DPTRSPFPSQ | HLEAPEDKSF | GSSLMESEVN | LDRYQTALEE | 
    400:
    VLSWLLSAED | TLQAQGEISN | DVEVVKDQFH | THEGYMMDLT | AHQGRVGNIL | 
    450:
    QLGSKLIGTG | KLSEDEETEV | QEQMNLLNSR | WECLRVASME | KQSNLHRVLM | 
    500:
    DLQNQKLKEL | NDWLTKTEER | TRKMEEEPLG | PDLEDLKRQV | QQHKVLQEDL | 
    550:
    EQEQVRVNSL | THMVVVVDES | SGDHATAALE | EQLKVLGDRW | ANICRWTEDR | 
    600:
    WVLLQDILLK | WQRLTEEQCL | FSAWLSEKED | AVNKIHTTGF | KDQNEMLSSL | 
    650:
    QKLAVLKADL | EKKKQSMGKL | YSLKQDLLST | LKNKSVTQKT | EAWLDNFARC | 
    700:
    WDNLVQKLEK | STAQISQAVT | TTQPSLTQTT | VMETVTTVTT | REQILVKHAQ | 
    750:
    EELPPPPPQK | KRQITVDSEI | RKRLDVDITE | LHSWITRSEA | VLQSPEFAIF | 
    800:
    RKEGNFSDLK | EKVNAIEREK | AEKFRKLQDA | SRSAQALVEQ | MVNEGVNADS | 
    850:
    IKQASEQLNS | RWIEFCQLLS | ERLNWLEYQN | NIIAFYNQLQ | QLEQMTTTAE | 
    900:
    NWLKIQPTTP | SEPTAIKSQL | KICKDEVNRL | SDLQPQIERL | KIQSIALKEK | 
    950:
    GQGPMFLDAD | FVAFTNHFKQ | VFSDVQAREK | ELQTIFDTLP | PMRYQETMSA | 
    1000:
    IRTWVQQSET | KLSIPQLSVT | DYEIMEQRLG | ELQALQSSLQ | EQQSGLYYLS | 
    1050:
    TTVKEMSKKA | PSEISRKYQS | EFEEIEGRWK | KLSSQLVEHC | QKLEEQMNKL | 
    1100:
    RKIQNHIQTL | KKWMAEVDVF | LKEEWPALGD | SEILKKQLKQ | CRLLVSDIQT | 
    1150:
    IQPSLNSVNE | GGQKIKNEAE | PEFASRLETE | LKELNTQWDH | MCQQVYARKE | 
    1200:
    ALKGGLEKTV | SLQKDLSEMH | EWMTQAEEEY | LERDFEYKTP | DELQKAVEEM | 
    1250:
    KRAKEEAQQK | EAKVKLLTES | VNSVIAQAPP | VAQEALKKEL | ETLTTNYQWL | 
    1300:
    CTRLNGKCKT | LEEVWACWHE | LLSYLEKANK | WLNEVEFKLK | TTENIPGGAE | 
    1350:
    EISEVLDSLE | NLMRHSEDNP | NQIRILAQTL | TDGGVMDELI | NEELETFNSR | 
    1400:
    WRELHEEAVR | RQKLLEQSIQ | SAQETEKSLH | LIQESLTFID | KQLAAYIADK | 
    1450:
    VDAAQMPQEA | QKIQSDLTSH | EISLEEMKKH | NQGKEAAQRV | LSQIDVAQKK | 
    1500:
    LQDVSMKFRL | FQKPANFEQR | LQESKMILDE | VKMHLPALET | KSVEQEVVQS | 
    1550:
    QLNHCVNLYK | SLSEVKSEVE | MVIKTGRQIV | QKKQTENPKE | LDERVTALKL | 
    1600:
    HYNELGAKVT | ERKQQLEKCL | KLSRKMRKEM | NVLTEWLAAT | DMELTKRSAV | 
    1650:
    EGMPSNLDSE | VAWGKATQKE | IEKQKVHLKS | ITEVGEALKT | VLGKKETLVE | 
    1700:
    DKLSLLNSNW | IAVTSRAEEW | LNLLLEYQKH | METFDQNVDH | ITKWIIQADT | 
    1750:
    LLDESEKKKP | QQKEDVLKRL | KAELNDIRPK | VDSTRDQAAN | LMANRGDHCR | 
    1800:
    KLVEPQISEL | NHRFAAISHR | IKTGKASIPL | KELEQFNSDI | QKLLEPLEAE | 
    1850:
    IQQGVNLKEE | DFNKDMNEDN | EGTVKELLQR | GDNLQQRITD | ERKREEIKIK | 
    1900:
    QQLLQTKHNA | LKDLRSQRRK | KALEISHQWY | QYKRQADDLL | KCLDDIEKKL | 
    1950:
    ASLPEPRDER | KIKEIDRELQ | KKKEELNAVR | RQAEGLSEDG | AAMAVEPTQI | 
    2000:
    QLSKRWREIE | SKFAQFRRLN | FAQIHTVREE | TMMVMTEDMP | LEISYVPSTY | 
    2050:
    LTEITHVSQA | LLEVEQLLNA | PDLCAKDFED | LFKQEESLKN | IKDSLQQSSG | 
    2100:
    RIDIIHSKKT | AALQSATPVE | RVKLQEALSQ | LDFQWEKVNK | MYKDRQGRFD | 
    2150:
    RSVEKWRRFH | YDIKIFNQWL | TEAEQFLRKT | QIPENWEHAK | YKWYLKELQD | 
    2200:
    GIGQRQTVVR | TLNATGEEII | QQSSKTDASI | LQEKLGSLNL | RWQEVCKQLS | 
    2250:
    DRKKRLEEQK | NILSEFQRDL | NEFVLWLEEA | DNIASIPLEP | GKEQQLKEKL | 
    2300:
    EQVKLLVEEL | PLRQGILKQL | NETGGPVLVS | APISPEEQDK | LENKLKQTNL | 
    2350:
    QWIKVSRALP | EKQGEIEAQI | KDLGQLEKKL | EDLEEQLNHL | LLWLSPIRNQ | 
    2400:
    LEIYNQPNQE | GPFDVKETEI | AVQAKQPDVE | EILSKGQHLY | KEKPATQPVK | 
    2450:
    RKLEDLSSEW | KAVNRLLQEL | RAKQPDLAPG | LTTIGASPTQ | TVTLVTQPVV | 
    2500:
    TKETAISKLE | MPSSLMLEVP | ALADFNRAWT | ELTDWLSLLD | QVIKSQRVMV | 
    2550:
    GDLEDINEMI | IKQKATMQDL | EQRRPQLEEL | ITAAQNLKNK | TSNQEARTII | 
    2600:
    TDRIERIQNQ | WDEVQEHLQN | RRQQLNEMLK | DSTQWLEAKE | EAEQVLGQAR | 
    2650:
    AKLESWKEGP | YTVDAIQKKI | TETKQLAKDL | RQWQTNVDVA | NDLALKLLRD | 
    2700:
    YSADDTRKVH | MITENINASW | RSIHKRVSER | EAALEETHRL | LQQFPLDLEK | 
    2750:
    FLAWLTEAET | TANVLQDATR | KERLLEDSKG | VKELMKQWQD | LQGEIEAHTD | 
    2800:
    VYHNLDENSQ | KILRSLEGSD | DAVLLQRRLD | NMNFKWSELR | KKSLNIRSHL | 
    2850:
    EASSDQWKRL | HLSLQELLVW | LQLKDDELSR | QAPIGGDFPA | VQKQNDVHRA | 
    2900:
    FKRELKTKEP | VIMSTLETVR | IFLTEQPLEG | LEKLYQEPRE | LPPEERAQNV | 
    2950:
    TRLLRKQAEE | VNTEWEKLNL | HSADWQRKID | ETLERLQELQ | EATDELDLKL | 
    3000:
    RQAEVIKGSW | QPVGDLLIDS | LQDHLEKVKA | LRGEIAPLKE | NVSHVNDLAR | 
    3050:
    QLTTLGIQLS | PYNLSTLEDL | NTRWKLLQVA | VEDRVRQLHE | AHRDFGPASQ | 
    3100:
    HFLSTSVQGP | WERAISPNKV | PYYINHETQT | TCWDHPKMTE | LYQSLADLNN | 
    3150:
    VRFSAYRTAM | KLRRLQKALC | LDLLSLSAAC | DALDQHNLKQ | NDQPMDILQI | 
    3200:
    INCLTTIYDR | LEQEHNNLVN | VPLCVDMCLN | WLLNVYDTGR | TGRIRVLSFK | 
    3250:
    TGIISLCKAH | LEDKYRYLFK | QVASSTGFCD | QRRLGLLLHD | SIQIPRQLGE | 
    3300:
    VASFGGSNIE | PSVRSCFQFA | NNKPEIEAAL | FLDWMRLEPQ | SMVWLPVLHR | 
    3350:
    VAAAETAKHQ | AKCNICKECP | IIGFRYRSLK | HFNYDICQSC | FFSGRVAKGH | 
    3400:
    KMHYPMVEYC | TPTTSGEDVR | DFAKVLKNKF | RTKRYFAKHP | RMGYLPVQTV | 
    3450:
    LEGDNMETPV | TLINFWPVDS | APASSPQLSH | DDTHSRIEHY | ASRLAEMENS | 
    3500:
    NGSYLNDSIS | PNESIDDEHL | LIQHYCQSLN | QDSPLSQPRS | PAQILISLES | 
    3550:
    EERGELERIL | ADLEEENRNL | QAEYDRLKQQ | HEHKGLSPLP | SPPEMMPTSP | 
    3600:
    QSPRDAELIA | EAKLLRQHKG | RLEARMQILE | DHNKQLESQL | HRLRQLLEQP | 
    3650:
    QAEAKVNGTT | VSSPSTSLQR | SDSSQPMLLR | VVGSQTSDSM | GEEDLLSPPQ | 
    3685:
    DTSTGLEEVM | EQLNNSFPSS | RGRNTPGKPM | REDTM
    3D Structure:
    N/A
    Predicted Eptitope:
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    EIAab Sequence  Vaild Sequence:
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    Related Databases
    KEGG:
    UniGene:
    Pfam:
    MIM:
    SMR:
    String:
    Uniprot:
     
    FOR
    ELISA Kit for Human Dystrophin
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    E1503h
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    ELISA Kit for Human Dystrophin
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    ELISA Kit for Human Dystrophin
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    E1503m
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    96T
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    ELISA Kit for Human Dystrophin
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    E1503d
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    96T
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    ELISA Kit for Human Dystrophin
    Cat.:
    E1503c
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    Packing:
    96T
    ELISA Kit for Human Dystrophin
    Cat.:
    E1503p
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    Packing:
    96T
    CLIA Kit for Human Dystrophin
    Cat.:
    U1503c
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Dystrophin
    Cat.:
    U1503d
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Dystrophin
    MSDS:
    Please sign in first.
    CLIA Kit for Human Dystrophin
    Cat.:
    U1503h
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    CLIA Kit for Human Dystrophin
    Cat.:
    U1503m
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    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Dystrophin
    Cat.:
    U1503p
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    MSDS:
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    Packing:
    96T
    Polyclonal Antibody for Human Dystrophin
    Cat.:
    P1503Rb-m
    Price:
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Dystrophin
    Polyclonal Antibody for Human Dystrophin
    Polyclonal Antibody for Human Dystrophin
    Cat.:
    P1503Rb-h
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Dystrophin
    Polyclonal Antibody for Human Dystrophin
    Monoclonal Antibody for Human Dystrophin
    Monoclonal Antibody for Human Dystrophin
    Monoclonal Antibody for Human Dystrophin
    Monoclonal Antibody for Human Dystrophin
    Monoclonal Antibody for Human Dystrophin
    Monoclonal Antibody for Human Dystrophin
    Protein for Human Dystrophin
    Protein for Human Dystrophin
    Protein for Human Dystrophin
    Protein for Human Dystrophin
    Protein for Human Dystrophin
    Protein for Human Dystrophin

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    Recovery
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    Linearity
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    References
    1. 1.
      "The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein."
      Koenig M. , Monaco A.P. , Kunkel L.M.
      Cell53:219-228(1988) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4);VARIANTS GLY-882; LEU-1469 AND GLN-2366
      tissue: Muscle.
    2. 2.
      "Two human cDNA molecules coding for the Duchenne muscular dystrophy (DMD) locus are highly homologous."
      Rosenthal A. , Speer A. , Billowitz H. , Cross G.S. , Forrest S.N. , Davies K.E.
      Nucleic Acids Res.17:5391-5391(1989) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4);VARIANTS PRO-133; ILE-623; GLY-784; GLY-882; PHE-1197; ASN-1377; HIS-1745 AND SER-1844
    3. 3.
      "A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues."
      Lederfein D. , Levy Z. , Augier N. , Mornet D. , Morris G. , Fuchs O. , Yaffe D. , Nudel U.
      Proc. Natl. Acad. Sci. U.S.A.89:5346-5350(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5);TISSUE SPECIFICITY
      tissue: Brain.
    4. 4.
      "The DNA sequence of the human X chromosome."
      Ross M.T. , Grafham D.V. , Coffey A.J. , Scherer S. , McLay K. , Muzny D. , Platzer M. , Howell G.R. , Burrows C. , Bird C.P. , Frankish A. , Lovell F.L. , Howe K.L. , Ashurst J.L. , Fulton R.S. , Sudbrak R. , Wen G. , Jones M.C. , more...
      Nature434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA];VARIANT ARG-2937
    5. 5.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    6. 6.
      "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 6 AND 8)
      tissue: Brain.
      tissue: Placenta.
      tissue: Testis.
    7. 7.
      White R.A.
      Submitted (1996-01) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-1411 (ISOFORMS 1 AND 2)
      tissue: Retina.
    8. 8.
      "Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals."
      Koenig M. , Hoffman E.P. , Bertelson C.J. , Monaco A.P. , Feener C. , Kunkel L.M.
      Cell50:509-517(1987) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-497 (ISOFORM 4)
    9. 9.
      "Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus."
      Feener C.A. , Koenig M. , Kunkel L.M.
      Nature338:509-511(1989) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-32 (ISOFORM 3);ALTERNATIVE SPLICING
      tissue: Brain.
    10. 10.
      "Deletions of fetal and adult muscle cDNA in Duchenne and Becker muscular dystrophy patients."
      Cross G.S. , Speer A. , Rosenthal A. , Forrest S.M. , Smith T.J. , Edwards Y. , Flint T. , Hill D. , Davies K.E.
      EMBO J.6:3277-3283(1987) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 404-1137 (ISOFORMS 3/4/5);VARIANT GLY-882
    11. 11.
      "Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification."
      Chamberlain J.S. , Gibbs R.A. , Ranier J.A. , Nguyen P.N. , Caskey C.T.
      Nucleic Acids Res.16:11141-11156(1988) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 665-722; 2098-2204 AND 2305-2366
    12. 12.
      "High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization."
      Blonden L.A.J. , den Dunnen J.T. , van Paassen H.M.B. , Wapenaar M.C. , Grootscholten P.M. , Ginjaar H.B. , Bakker E. , Pearson P.L. , van Ommen G.J.B.
      Nucleic Acids Res.17:5611-5621(1989) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 2147-2204
    13. 13.
      "Differences in introns flanking exon 48 of the DMD/BMD gene."
      Huth A. , Will K. , Speer A. , Bauer D.
      Submitted (1991-03) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 2305-2364
    14. 14.
      "Cloning and characterization of alternatively spliced isoforms of Dp71."
      Austin R.C. , Howard P.L. , D'Souza V.N. , Klamut H.J. , Ray P.N.
      Hum. Mol. Genet.4:1475-1483(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 3670-3685 (ISOFORMS 1/2/3/4 AND 5);TISSUE SPECIFICITY
      tissue: Amnion.
    15. 15.
      "Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility."
      Koenig M. , Kunkel L.M.
      J. Biol. Chem.265:4560-4566(1990) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ANALYSIS OF THE DOMAIN STRUCTURE
    16. 16.
      "Identification and characterization of the dystrophin anchoring site on beta-dystroglycan."
      Jung D. , Yang B. , Meyer J. , Chamberlain J.S. , Campbell K.P.
      J. Biol. Chem.270:27305-27310(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH DAG1
    17. 17.
      "Syntrophin binds to an alternatively spliced exon of dystrophin."
      Ahn A.H. , Kunkel L.M.
      J. Cell Biol.128:363-371(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH SNTB1
    18. 18.
      "The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives."
      Ahn A.H. , Feener C.A. , Gussoni E. , Yoshida M. , Ozawa E. , Kunkel L.M.
      J. Biol. Chem.271:2724-2730(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH SNTA1 AND SNTB2
    19. 19.
      "A splice variant of Dp71 lacking the syntrophin binding site is expressed in early stages of human neural development."
      Ceccarini M. , Rizzo G. , Rosa G. , Chelucci C. , Macioce P. , Petrucci T.C.
      Brain Res. Dev. Brain Res.103:77-82(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ALTERNATIVE SPLICING (ISOFORMS 5 AND 9);DEVELOPMENTAL STAGE
      tissue: Telencephalon.
    20. 20.
      "Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells."
      Piluso G. , Mirabella M. , Ricci E. , Belsito A. , Abbondanza C. , Servidei S. , Puca A.A. , Tonali P. , Puca G.A. , Nigro V.
      J. Biol. Chem.275:15851-15860(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH SNTG1 AND SNTG2
    21. 21.
      "Expression and synthesis of alternatively spliced variants of Dp71 in adult human brain."
      Austin R.C. , Morris G.E. , Howard P.L. , Klamut H.J. , Ray P.N.
      Neuromuscul. Disord.10:187-193(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ALTERNATIVE SPLICING (ISOFORMS 9 AND 10)
      tissue: Brain.
    22. 22.
      "The interaction of dystrophin with beta-dystroglycan is regulated by tyrosine phosphorylation."
      Ilsley J.L. , Sudol M. , Winder S.J.
      Cell. Signal.13:625-632(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH DAG1
    23. 23.
      "Specific interaction of the actin-binding domain of dystrophin with intermediate filaments containing keratin 19."
      Stone M.R. , O'Neill A. , Catino D. , Bloch R.J.
      Mol. Biol. Cell16:4280-4293(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH KRT19;TISSUE SPECIFICITY
    24. 24.
      "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V. , Blagoev B. , Gnad F. , Macek B. , Kumar C. , Mortensen P. , Mann M.
      Cell127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    25. 25.
      "Role of dystrophin and utrophin for assembly and function of the dystrophin glycoprotein complex in non-muscle tissue."
      Haenggi T. , Fritschy J.M.
      Cell. Mol. Life Sci.63:1614-1631(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION IN THE DYSTROPHIN-ASSOCIATED GLYCOPROTEIN COMPLEX
    26. 26.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-3483; SER-3613; SER-3617; SER-3623 AND SER-3666;PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-340; SER-344 AND SER-348 (ISOFORMS 5 AND 8);IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    27. 27.
      "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S. , Helbig A.O. , Slijper M. , Krijgsveld J. , Heck A.J. , Mohammed S.
      Anal. Chem.81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
    28. 28.
      "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V. , Vermeulen M. , Santamaria A. , Kumar C. , Miller M.L. , Jensen L.J. , Gnad F. , Cox J. , Jensen T.S. , Nigg E.A. , Brunak S. , Mann M.
      Sci. Signal.3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-3612; SER-3613 AND SER-3623;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    29. 29.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
    30. 30.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
    31. 31.
      "Structure of a WW domain containing fragment of dystrophin in complex with beta-dystroglycan."
      Huang X. , Poy F. , Zhang R. , Joachimiak A. , Sudol M. , Eck M.J.
      Nat. Struct. Biol.7:634-638(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 3046-3306 IN COMPLEX WITH DAG1
    32. 32.
      "The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy."
      Norwood F.L.M. , Sutherland-Smith A.J. , Keep N.H. , Kendrick-Jones J.
      Structure8:481-491(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 1-246
    33. 33.
      "Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations."
      Roberts R.G. , Gardner R.J. , Bobrow M.
      Hum. Mutat.4:1-11(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON DMD VARIANTS
    34. 34.
      "Microlesions and polymorphisms in the Duchenne/Becker muscular dystrophy gene."
      Rininsland F. , Reiss J.
      Hum. Genet.94:111-116(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
    35. 35.
      "A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient."
      Prior T.W. , Papp A.C. , Snyder P.J. , Burghes A.H.M. , Bartolo C. , Sedra M.S. , Western L.M. , Mendell J.R.
      Nat. Genet.4:357-360(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DMD ARG-54
    36. 36.
      "Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16."
      Prior T.W. , Bartolo C. , Papp A.C. , Snyder P.J. , Sedra M.S. , Burghes A.H. , Mendell J.R.
      Hum. Mol. Genet.3:1173-1174(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DMD GLY-645
    37. 37.
      "Novel small mutations along the DMD/BMD gene associated with different phenotypes."
      Nigro V. , Nigro G. , Esposito M.G. , Comi L.I. , Molinari A.M. , Puca G.A. , Politano L.
      Hum. Mol. Genet.3:1907-1908(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HIS-365; TRP-2191 AND ARG-2937
    38. 38.
      "A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave."
      Lenk U. , Oexle K. , Voit T. , Ancker U. , Hellner K.A. , Speer A. , Hubner C.
      Hum. Mol. Genet.5:973-975(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DMD TYR-3340
    39. 39.
      "Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy."
      Ortiz-Lopez R. , Li H. , Su J. , Goytia V. , Towbin J.A.
      Circulation95:2434-2440(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMD3B ALA-279
    40. 40.
      "A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype."
      Goldberg L.R. , Hausmanowa-Petrusewicz I. , Fidzianska A. , Duggan D.J. , Steinberg L.S. , Hoffman E.P.
      Ann. Neurol.44:971-976(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DMD HIS-3335
    41. 41.
      "Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA)."
      Eraslan S. , Kayserili H. , Apak M.Y. , Kirdar B.
      Eur. J. Hum. Genet.7:765-770(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT BMD PRO-171
    42. 42.
      "Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy."
      Feng J. , Yan J.Y. , Buzin C.H. , Sommer S.S. , Towbin J.A.
      J. Am. Coll. Cardiol.40:1120-1124(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMD3B LYS-1672
    43. 43.
      "Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy."
      Feng J. , Yan J. , Buzin C.H. , Towbin J.A. , Sommer S.S.
      Mol. Genet. Metab.77:119-126(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMD3B ASN-18 AND LEU-3228;VARIANTS TRP-2155; THR-2299; GLN-2366; VAL-2910; ASP-2912 AND ARG-2937
    44. 44.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DMD PHE-3313;VARIANT VAL-165
    45. 45.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS [LARGE SCALE ANALYSIS] PHE-334; GLN-1219; HIS-1470 AND VAL-2164
    46. 46.
      "Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing."
      Magri F. , Del Bo R. , D'Angelo M.G. , Govoni A. , Ghezzi S. , Gandossini S. , Sciacco M. , Ciscato P. , Bordoni A. , Tedeschi S. , Fortunato F. , Lucchini V. , Cereda M. , Corti S. , Moggio M. , Bresolin N. , Comi G.P.
      BMC Med. Genet.12:37-37(2011) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ARG-118
    47. 47.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF VARIANTS DMD PHE-3313; HIS-3335 AND TYR-3340
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