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Index > Protein center > NOTCH3(Gene name) > Human
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  • NOTCH3 (Gene name),
  • Neurogenic locus notch homolog protein 3 (Protein name ),  NOTC3_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • Predicted Eptitope
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  • Gene name:
    NOTCH3;
    Protein name:
    Neurogenic locus notch homolog protein 3(Notch 3);
    Alternative:

    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Heterodimer of a C-terminal fragment N(TM) and a N-terminal fragment N(EC) which are probably linked by disulfide bonds (By similarity). Interacts with MAML1, MAML2 and MAML3 which act as transcriptional coactivators for NOTCH3. Interacts with PSMA1.
    Function:
    Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs.
    Subcellular Location:
    Notch 3 intracellular domain Nucleus Following proteolytical processing NICD is translocated to the nucleus.
    Protein Attributes:
    Sequence length:
    2321
    Sequence:
    50:
    MGPGARGRRR | RRRPMSPPPP | PPPVRALPLL | LLLAGPGAAA | PPCLDGSPCA | 
    100:
    NGGRCTQLPS | REAACLCPPG | WVGERCQLED | PCHSGPCAGR | GVCQSSVVAG | 
    150:
    TARFSCRCPR | GFRGPDCSLP | DPCLSSPCAH | GARCSVGPDG | RFLCSCPPGY | 
    200:
    QGRSCRSDVD | ECRVGEPCRH | GGTCLNTPGS | FRCQCPAGYT | GPLCENPAVP | 
    250:
    CAPSPCRNGG | TCRQSGDLTY | DCACLPGFEG | QNCEVNVDDC | PGHRCLNGGT | 
    300:
    CVDGVNTYNC | QCPPEWTGQF | CTEDVDECQL | QPNACHNGGT | CFNTLGGHSC | 
    350:
    VCVNGWTGES | CSQNIDDCAT | AVCFHGATCH | DRVASFYCAC | PMGKTGLLCH | 
    400:
    LDDACVSNPC | HEDAICDTNP | VNGRAICTCP | PGFTGGACDQ | DVDECSIGAN | 
    450:
    PCEHLGRCVN | TQGSFLCQCG | RGYTGPRCET | DVNECLSGPC | RNQATCLDRI | 
    500:
    GQFTCICMAG | FTGTYCEVDI | DECQSSPCVN | GGVCKDRVNG | FSCTCPSGFS | 
    550:
    GSTCQLDVDE | CASTPCRNGA | KCVDQPDGYE | CRCAEGFEGT | LCDRNVDDCS | 
    600:
    PDPCHHGRCV | DGIASFSCAC | APGYTGTRCE | SQVDECRSQP | CRHGGKCLDL | 
    650:
    VDKYLCRCPS | GTTGVNCEVN | IDDCASNPCT | FGVCRDGINR | YDCVCQPGFT | 
    700:
    GPLCNVEINE | CASSPCGEGG | SCVDGENGFR | CLCPPGSLPP | LCLPPSHPCA | 
    750:
    HEPCSHGICY | DAPGGFRCVC | EPGWSGPRCS | QSLARDACES | QPCRAGGTCS | 
    800:
    SDGMGFHCTC | PPGVQGRQCE | LLSPCTPNPC | EHGGRCESAP | GQLPVCSCPQ | 
    850:
    GWQGPRCQQD | VDECAGPAPC | GPHGICTNLA | GSFSCTCHGG | YTGPSCDQDI | 
    900:
    NDCDPNPCLN | GGSCQDGVGS | FSCSCLPGFA | GPRCARDVDE | CLSNPCGPGT | 
    950:
    CTDHVASFTC | TCPPGYGGFH | CEQDLPDCSP | SSCFNGGTCV | DGVNSFSCLC | 
    1000:
    RPGYTGAHCQ | HEADPCLSRP | CLHGGVCSAA | HPGFRCTCLE | SFTGPQCQTL | 
    1050:
    VDWCSRQPCQ | NGGRCVQTGA | YCLCPPGWSG | RLCDIRSLPC | REAAAQIGVR | 
    1100:
    LEQLCQAGGQ | CVDEDSSHYC | VCPEGRTGSH | CEQEVDPCLA | QPCQHGGTCR | 
    1150:
    GYMGGYMCEC | LPGYNGDNCE | DDVDECASQP | CQHGGSCIDL | VARYLCSCPP | 
    1200:
    GTLGVLCEIN | EDDCGPGPPL | DSGPRCLHNG | TCVDLVGGFR | CTCPPGYTGL | 
    1250:
    RCEADINECR | SGACHAAHTR | DCLQDPGGGF | RCLCHAGFSG | PRCQTVLSPC | 
    1300:
    ESQPCQHGGQ | CRPSPGPGGG | LTFTCHCAQP | FWGPRCERVA | RSCRELQCPV | 
    1350:
    GVPCQQTPRG | PRCACPPGLS | GPSCRSFPGS | PPGASNASCA | AAPCLHGGSC | 
    1400:
    RPAPLAPFFR | CACAQGWTGP | RCEAPAAAPE | VSEEPRCPRA | ACQAKRGDQR | 
    1450:
    CDRECNSPGC | GWDGGDCSLS | VGDPWRQCEA | LQCWRLFNNS | RCDPACSSPA | 
    1500:
    CLYDNFDCHA | GGRERTCNPV | YEKYCADHFA | DGRCDQGCNT | EECGWDGLDC | 
    1550:
    ASEVPALLAR | GVLVLTVLLP | PEELLRSSAD | FLQRLSAILR | TSLRFRLDAH | 
    1600:
    GQAMVFPYHR | PSPGSEPRAR | RELAPEVIGS | VVMLEIDNRL | CLQSPENDHC | 
    1650:
    FPDAQSAADY | LGALSAVERL | DFPYPLRDVR | GEPLEPPEPS | VPLLPLLVAG | 
    1700:
    AVLLLVILVL | GVMVARRKRE | HSTLWFPEGF | SLHKDVASGH | KGRREPVGQD | 
    1750:
    ALGMKNMAKG | ESLMGEVATD | WMDTECPEAK | RLKVEEPGMG | AEEAVDCRQW | 
    1800:
    TQHHLVAADI | RVAPAMALTP | PQGDADADGM | DVNVRGPDGF | TPLMLASFCG | 
    1850:
    GALEPMPTEE | DEADDTSASI | ISDLICQGAQ | LGARTDRTGE | TALHLAARYA | 
    1900:
    RADAAKRLLD | AGADTNAQDH | SGRTPLHTAV | TADAQGVFQI | LIRNRSTDLD | 
    1950:
    ARMADGSTAL | ILAARLAVEG | MVEELIASHA | DVNAVDELGK | SALHWAAAVN | 
    2000:
    NVEATLALLK | NGANKDMQDS | KEETPLFLAA | REGSYEAAKL | LLDHFANREI | 
    2050:
    TDHLDRLPRD | VAQERLHQDI | VRLLDQPSGP | RSPPGPHGLG | PLLCPPGAFL | 
    2100:
    PGLKAAQSGS | KKSRRPPGKA | GLGPQGPRGR | GKKLTLACPG | PLADSSVTLS | 
    2150:
    PVDSLDSPRP | FGGPPASPGG | FPLEGPYAAA | TATAVSLAQL | GGPGRAGLGR | 
    2200:
    QPPGGCVLSL | GLLNPVAVPL | DWARLPPPAP | PGPSFLLPLA | PGPQLLNPGT | 
    2250:
    PVSPQERPPP | YLAVPGHGEE | YPAAGAHSSP | PKARFLRVPS | EHPYLTPSPE | 
    2300:
    SPEHWASPSP | PSLSDWSEST | PSPATATGAM | ATTTGALPAQ | PLPLSVPSSL | 
    2321:
    AQAQTQLGPQ | PEVTPKRQVL | A
    3D Structure:
    N/A
    Predicted Eptitope:
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    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    String:
    MIM:
    UniGene:
    Pfam:
    SMR:
    KEGG:
    Uniprot:
     
    FOR
    ELISA Kit for Human Notch 3
    Cat.:
    E3908m
    Price:
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    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    ELISA Kit for Human Notch 3
    Cat.:
    E3908r
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    ELISA Kit for Human Notch 3
    Cat.:
    E3908h
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    CLIA Kit for Human Notch 3
    Cat.:
    U3908h
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    CLIA Kit for Human Notch 3
    Cat.:
    U3908m
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Notch 3
    Cat.:
    U3908r
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Polyclonal Antibody for Human Notch 3
    Cat.:
    P3908Rb-h
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Notch 3
    Polyclonal Antibody for Human Notch 3
    Cat.:
    P3908Rb-m
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human Notch 3
    Monoclonal Antibody for Human Notch 3
    Monoclonal Antibody for Human Notch 3
    Protein for Human Notch 3
    Protein for Human Notch 3
    Protein for Human Notch 3

    R&D Technical Data
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    Precision
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    Recovery
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    Linearity
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    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
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    References
    1. 1.
      [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];VARIANT VAL-2223
    2. 2.
      Gunel M. , Artavanis-Tsakonas S.
      Submitted (1998-04) 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]
    3. 3.
      "The DNA sequence and biology of human chromosome 19."
      Grimwood J. , Gordon L.A. , Olsen A.S. , Terry A. , Schmutz J. , Lamerdin J.E. , Hellsten U. , Goodstein D. , Couronne O. , Tran-Gyamfi M. , Aerts A. , Altherr M. , Ashworth L. , Bajorek E. , Black S. , Branscomb E. , Caenepeel S. , Carrano A.V. , more...
      Nature428:529-535(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 GENOMIC DNA]
    4. 4.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION OF LIGANDS
    5. 5.
      "MAML1, a human homologue of Drosophila mastermind, is a transcriptional co-activator for NOTCH receptors."
      Wu L. , Aster J.C. , Blacklow S.C. , Lake R. , Artavanis-Tsakonas S. , Griffin J.D.
      Nat. Genet.26:484-489(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 MAML1
    6. 6.
      "Identification of a family of mastermind-like transcriptional coactivators for mammalian notch receptors."
      Wu L. , Sun T. , Kobayashi K. , Gao P. , Griffin J.D.
      Mol. Cell. Biol.22:7688-7700(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: INTERACTION WITH MAML2 AND MAML3
    7. 7.
      "Conserved signal peptide of Notch3 inhibits interaction with proteasome."
      Zhang Y. , Jia L. , Lee S.J. , Wang M.M.
      Biochem. Biophys. Res. Commun.355:245-251(2007) [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 PSMA1
    8. 8.
      "Asparaginyl hydroxylation of the Notch ankyrin repeat domain by factor inhibiting hypoxia-inducible factor."
      Coleman M.L. , McDonough M.A. , Hewitson K.S. , Coles C. , Mecinovic J. , Edelmann M. , Cook K.M. , Cockman M.E. , Lancaster D.E. , Kessler B.M. , Oldham N.J. , Ratcliffe P.J. , Schofield C.J.
      J. Biol. Chem.282:24027-24038(2007) [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 HIF1AN
    9. 9.
      "Interaction with factor inhibiting HIF-1 defines an additional mode of cross-coupling between the Notch and hypoxia signaling pathways."
      Zheng X. , Linke S. , Dias J.M. , Zheng X. , Gradin K. , Wallis T.P. , Hamilton B.R. , Gustafsson M. , Ruas J.L. , Wilkins S. , Bilton R.L. , Brismar K. , Whitelaw M.L. , Pereira T. , Gorman J.J. , Ericson J. , Peet D.J. , Lendahl U. , more...
      Proc. Natl. Acad. Sci. U.S.A.105:3368-3373(2008) [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: HYDROXYLATION BY HIF1AN
    10. 10.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CADASIL TYR-49; CYS-71; CYS-90; CYS-110; CYS-133; CYS-141; ARG-146; CYS-153; CYS-169; CYS-171; CYS-182; ARG-185; SER-212; GLY-222; TYR-224; CYS-258; TYR-542; CYS-558; CYS-578; CYS-728; CYS-985; CYS-1006; CYS-1031; CYS-1231 AND ARG-1261;VARIANTS ARG-170; LEU-496; GLN-1133; MET-1183 AND VAL-2223
    11. 11.
      "Quantitative MRI in CADASIL: correlation with disability and cognitive performance."
      Dichgans M. , Filippi M. , Bruening R. , Iannucci G. , Berchtenbreiter C. , Minicucci L. , Uttner I. , Crispin A. , Ludwig H. , Gasser T. , Yousry T.A.
      Neurology52:1361-1367(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: VARIANTS CADASIL CYS-90; PHE-117; CYS-133; CYS-141; CYS-169; TYR-174; CYS-182 AND ARG-183
    12. 12.
      "Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group."
      Dutch CADASIL research group , Lesnik Oberstein S.A.J. , Ferrari M.D. , Bakker E. , van Gestel J. , Kneppers A.L.J. , Frants R.R. , Breuning M.H. , Haan J.
      Neurology52:1913-1915(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: VARIANTS CADASIL CYS-133; CYS-141; CYS-153; CYS-182; CYS-207; CYS-544 AND ARG-1015
    13. 13.
      "Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains."
      Dichgans M. , Ludwig H. , Mueller-Hoecker J. , Messerschmidt A. , Gasser T.
      Eur. J. Hum. Genet.8:280-285(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: VARIANTS CADASIL 80-ASP--SER-84 DEL; CYS-90; PHE-93; CYS-110; PHE-117; PHE-123; CYS-133; CYS-141; SER-144; TYR-144; CYS-150; 153-ARG--CYS-155 DEL; CYS-153; CYS-169; TYR-174; CYS-182; ARG-183; SER-183; ARG-185 AND PHE-194
    14. 14.
      "Identification of a novel mutation C144F in the Notch3 gene in an Australian CADASIL pedigree."
      Grigg R. , Lea R. , Sullivan A.A. , Curtain R. , MacMillian J. , Griffiths L.
      Hum. Mutat.16:449-450(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: VARIANT CADASIL PHE-144
    15. 15.
      "Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content."
      Escary J.-L. , Cecillon M. , Maciazek J. , Lathrop M. , Tournier-Lasserve E. , Joutel A.
      Hum. Mutat.16:518-526(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: VARIANTS CADASIL TYR-49; CYS-54; CYS-90; CYS-110; 114-GLY--PRO-120 DEL; TYR-123; CYS-133; CYS-141; ARG-146; CYS-153; SER-162; CYS-169; TYR-174; CYS-180; CYS-182; ARG-185; TYR-194; TYR-206; CYS-207; SER-212; GLY-222; TYR-224; CYS-258; TYR-542; CYS-558; CYS-578; CYS-607; CYS-728; CYS-984; CYS-985; CYS-1006; CYS-1031; CYS-1231 AND ARG-1261
    16. 16.
      "Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL."
      Joutel A. , Chabriat H. , Vahedi K. , Domenga V. , Vayssiere C. , Ruchoux M.M. , Lucas C. , Leys D. , Bousser M.-G. , Tournier-Lasserve E.
      Neurology54:1874-1875(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: VARIANT CADASIL 114-GLY--PRO-120 DEL
    17. 17.
      "A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings."
      Oliveri R.L. , Muglia M. , De Stefano N. , Mazzei R. , Labate A. , Conforti F.L. , Patitucci A. , Gabriele A.L. , Tagarelli G. , Magariello A. , Zappia M. , Gambardella A. , Federico A. , Quattrone A.
      Arch. Neurol.58:1418-1422(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: VARIANT CADASIL CYS-332
    18. 18.
      "Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis."
      Joutel A. , Favrole P. , Labauge P. , Chabriat H. , Lescoat C. , Andreux F. , Domenga V. , Cecillon M. , Vahedi K. , Ducros A. , Cave-Riant F. , Bousser M.G. , Tournier-Lasserve E.
      Lancet358:2049-2051(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: VARIANTS CADASIL CYS-110; CYS-133; TRP-134; CYS-141; CYS-153; CYS-182; GLY-185; CYS-207; SER-212; GLY-222; SER-428; CYS-558; CYS-985 AND CYS-1063
    19. 19.
      "Reversible coma with raised intracranial pressure: an unusual clinical manifestation of CADASIL."
      Feuerhake F. , Volk B. , Ostertag C.B. , Jungling F.D. , Kassubek J. , Orszagh M. , Dichgans M.
      Acta Neuropathol.103:188-192(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 CADASIL TRP-134
    20. 20.
      "CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia."
      Kalimo H. , Ruchoux M.-M. , Viitanen M. , Kalaria R.N.
      Brain Pathol.12:371-384(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 CADASIL ARG-76; TYR-93; TYR-128; CYS-142; ARG-194; TYR-222; SER-233; ARG-251; CYS-420; GLY-440; CYS-449; CYS-953 AND CYS-1021
    21. 21.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CADASIL ARG-455
    22. 22.
      "A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patient."
      Moon S.-Y. , Kim H.-Y. , Seok J.-I. , Kwon J.-C. , Ki C.-S. , Kim J.-W. , Suh Y.-L. , Na D.L.
      J. Korean Med. Sci.18:141-144(2003) [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 CADASIL TYR-67
    23. 23.
      "Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis."
      Santa Y. , Uyama E. , Chui D.H. , Arima M. , Kotorii S. , Takahashi K. , Tabira T.
      J. Neurol. Sci.212:79-84(2003) [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 CADASIL CYS-90; CYS-133; CYS-169; ARG-174; PHE-174 AND LYS-213
    24. 24.
      "The influence of genetic and cardiovascular risk factors on the CADASIL phenotype."
      Singhal S. , Bevan S. , Barrick T. , Rich P. , Markus H.S.
      Brain127:2031-2038(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: VARIANTS CADASIL ARG-76; CYS-90; CYS-110; CYS-141; CYS-153; CYS-169; CYS-182; ARG-183; CYS-189; SER-194; CYS-207; ARG-251; CYS-332; GLY-440; CYS-607; CYS-953 AND CYS-1231
    25. 25.
      "Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients."
      Opherk C. , Peters N. , Herzog J. , Luedtke R. , Dichgans M.
      Brain127:2533-2539(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: VARIANTS CADASIL GLY-43; PHE-49; CYS-60; SER-65; TRP-76; 77-GLN--CYS-82 DEL; 80-ASP--SER-84 DEL; ARG-87; TYR-87; CYS-90; PHE-93; TRP-106; TYR-108; CYS-110; PHE-117; PHE-123; CYS-133; TRP-134; CYS-141; SER-144; TYR-144; CYS-145; CYS-149; CYS-150; 153-ARG--155-CYS DEL; CYS-153; SER-155; CYS-169; ARG-174; TYR-174; CYS-182; ARG-183; SER-183; PHE-183; ARG-185; PHE-194; TYR-201; CYS-207; TYR-233; 239-ASP--ASP-253 DEL; SER-240; ARG-245; TYR-260; CYS-332; CYS-335; CYS-337; SER-379; ARG-395; CYS-421; TYR-428; ARG-440; SER-446; TYR-484; TYR-495; ARG-511; TYR-549; CYS-558; CYS-985 AND TYR-1261
    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: VARIANT CADASIL CYS-133
    27. 27.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CADASIL TRP-108
    28. 28.
      "Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies."
      Peters N. , Opherk C. , Bergmann T. , Castro M. , Herzog J. , Dichgans M.
      Arch. Neurol.62:1091-1094(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: VARIANTS CADASIL GLY-43; PHE-49; CYS-60; SER-65; TRP-76; 80-ASP--SER-84 DEL; ARG-87; CYS-90; PHE-93; TYR-108; CYS-110; PHE-117; PHE-123; CYS-133; TRP-134; CYS-141; SER-144; TYR-144; CYS-149; CYS-150; CYS-153; 153-ARG--CYS-155 DEL; CYS-169; ARG-174; TYR-174; CYS-182; SER-183; PHE-183; ARG-185; PHE-194; CYS-207; TYR-233; SER-240; ARG-245; TYR-260; 239-ASP--ASP-253 DEL; CYS-319; CYS-332; CYS-335; CYS-337; SER-379; ARG-395; CYS-421; TYR-428; ARG-440; PHE-484; TYR-495; ARG-511; TYR-549; CYS-558; CYS-728; SER-775; CYS-985 AND TYR-1261
    29. 29.
      "Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy."
      Soong B.W. , Lee Y.-C. , Lu Y.-C.
      Hum. Genet.116:242-242(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: VARIANT CADASIL CYS-118
    30. 30.
      "Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain."
      Fouillade C. , Chabriat H. , Riant F. , Mine M. , Arnoud M. , Magy L. , Bousser M.G. , Tournier-Lasserve E. , Joutel A.
      Hum. Mutat.29:452-452(2008) [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 BRAIN SMALL-VESSEL-DISEASE PRO-1515
    31. 31.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT IMF2 PRO-1519
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