SMN1 ELISA Kit for Human(Homo sapiens) | EIAab.comSMN1 ELISA Kit for Human(Homo sapiens)

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Index > Protein center > SMN1(Gene name) > Human

SMN1 (Gene name),

Survival motor neuron protein (Protein name ), SMN_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

SMN1(SMN;SMNT);

Protein name:

Survival motor neuron protein;

Alternative:

Gemin-1;Component of gems 1;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Component of an import snRNP complex composed of KPNB1, RNUT1, SMN1 and ZNF259. Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Interacts with DDX20, FBL, NOLA1, RNUT1, SYNCRIP and with several spliceosomal snRNP core Sm proteins, including SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE and ILF3. Interacts with OSTF1, LSM10 and LSM11.

Function:

The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus. It may also play a role in the metabolism of snoRNPs.

Subcellular Location:

Cytoplasm Nucleus gem Localized in subnuclear structures next to coiled bodies, called Gemini of Cajal bodies.

Protein Attributes:

Sequence length:

294

Sequence:

50:

100:

150:

200:

250:

294:

PDSLDDADAL | GSMLISWYMS | GYHTGYYMGF | RQNQKEGRCS | HSLN

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

UniGene:

Hs.202179

Pfam:

PF06003

KEGG:

hsa:6606

SMR:

Q16637

String:

Q16637

STRING:

9606.ENSP00000370083

MIM:

253300

Uniprot:

Q16637

FOR

ELISA Kit for Human Survival motor neuron protein

CLIA Kit for Human Survival motor neuron protein

Polyclonal Antibody for Human Survival motor neuron protein

Monoclonal Antibody for Human Survival motor neuron protein

Protein for Human Survival motor neuron protein

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Linearity

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

References

1.

"Identification and characterization of a spinal muscular atrophy-determining gene."
Lefebvre S. , Buerglen L. , Reboullet S. , Clermont O. , Burlet P. , Viollet L. , Benichou B. , Cruaud C. , Millasseau P. , Zeviani M. , le Paslier D. , Frezal J. , Cohen D. , Weissenbach J. , Munnich A. , Melki J.
Cell80:155-165(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 [GENOMIC DNA / MRNA];ALTERNATIVE SPLICING;VARIANT SMA1 CYS-272
tissue: Fetal brain.
2.

"Structure and organization of the human survival motor neurone (SMN) gene."
Buerglen L. , Lefebvre S. , Clermont O. , Burlet P. , Viollet L. , Cruaud C. , Munnich A. , Melki J.
Genomics32:479-482(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: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
3.

"Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP."
Chen Q. , Baird S.D. , Mahadevan M. , Besner-Johnston A. , Farahani R. , Xuan J.-Y. , Kang X. , Lefebvre C. , Ikeda J.-E. , Korneluk R.G. , MacKenzie A.E.
Genomics48:121-127(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: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
4.

"Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients."
Gennarelli M. , Lucarelli M. , Capon F. , Pizzuti A. , Merlini L. , Angelini C. , Novelli G. , Dallapiccola B.
Biochem. Biophys. Res. Commun.213:342-348(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];ALTERNATIVE SPLICING
tissue: Skeletal muscle.
5.

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
Nat. Genet.36:40-45(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] (ISOFORM SMN-DELTA7)
tissue: Amygdala.
6.

"The DNA sequence and comparative analysis of human chromosome 5."
Schmutz J. , Martin J. , Terry A. , Couronne O. , Grimwood J. , Lowry S. , Gordon L.A. , Scott D. , Xie G. , Huang W. , Hellsten U. , Tran-Gyamfi M. , She X. , Prabhakar S. , Aerts A. , Altherr M. , Bajorek E. , Black S. , more...
Nature431:268-274(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]
7.

"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 SMN AND SMN-DELTA7)
tissue: Kidney.
tissue: Lung.
tissue: Placenta.
tissue: Prostate.
8.

"A provisional transcript map of the spinal muscular atrophy (SMA) critical region."
van der Steege G. , Draaijers T.G. , Grootscholten P.M. , Osinga J. , Anzevino R. , Velona I. , Den Dunnen J.T. , Scheffer H. , Brahe C. , van Ommen G.J.B. , Buys C.H.C.M.
Eur. J. Hum. Genet.3:87-95(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 2-294
9.

"A novel nuclear structure containing the survival of motor neurons protein."
Liu Q. , Dreyfuss G.
EMBO J.15:3555-3565(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: SUBCELLULAR LOCATION
10.

"The survival motor neuron protein in spinal muscular atrophy."
Coovert D.D. , Le T.T. , McAndrew P.E. , Strasswimmer J. , Crawford T.O. , Mendell J.R. , Coulson S.E. , Androphy E.J. , Prior T.W. , Burghes A.H.M.
Hum. Mol. Genet.6:1205-1214(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: TISSUE SPECIFICITY
11.

"The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins."
Liu Q. , Fischer U. , Wang F. , Dreyfuss G.
Cell90:1013-1021(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: INTERACTION WITH GEMIN2
12.

"A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing."
Pellizzoni L. , Kataoka N. , Charroux B. , Dreyfuss G.
Cell95:615-624(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: FUNCTION IN U12 INTRONS SPLICING
13.

"SMN interacts with a novel family of hnRNP and spliceosomal proteins."
Mourelatos Z. , Abel L. , Yong J. , Kataoka N. , Dreyfuss G.
EMBO J.20:5443-5452(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 SYNCRIP
14.

"Coilin forms the bridge between Cajal bodies and SMN, the spinal muscular atrophy protein."
Hebert M.D. , Szymczyk P.W. , Shpargel K.B. , Matera A.G.
Genes Dev.15:2720-2729(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 COIL
15.

"Osteoclast-stimulating factor interacts with the spinal muscular atrophy gene product to stimulate osteoclast formation."
Kurihara N. , Menaa C. , Maeda H. , Haile D.J. , Reddy S.V.
J. Biol. Chem.276:41035-41039(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 OSTF1;TISSUE SPECIFICITY
16.

"Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein."
Gangwani L. , Mikrut M. , Theroux S. , Sharma M. , Davis R.J.
Nat. Cell Biol.3:376-383(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 ZPR1;SUBCELLULAR LOCATION
17.

"The SMN complex, an assemblyosome of ribonucleoproteins."
Paushkin S. , Gubitz A.K. , Massenet S. , Dreyfuss G.
Curr. Opin. Cell Biol.14:305-312(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: SUBCELLULAR LOCATION
18.

"SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin beta."
Narayanan U. , Ospina J.K. , Frey M.R. , Hebert M.D. , Matera A.G.
Hum. Mol. Genet.11:1785-1795(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: IDENTIFICATION IN AN IMPORT SNRNP COMPLEX;INTERACTION WITH DDX20; RNUT1 AND SNRPB
19.

"Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex."
Baccon J. , Pellizzoni L. , Rappsilber J. , Mann M. , Dreyfuss G.
J. Biol. Chem.277:31957-31962(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 GEMIN FAMILY MEMBERS
20.

"Unique Sm core structure of U7 snRNPs: assembly by a specialized SMN complex and the role of a new component, Lsm11, in histone RNA processing."
Pillai R.S. , Grimmler M. , Meister G. , Will C.L. , Luehrmann R. , Fischer U. , Schuemperli D.
Genes Dev.17:2321-2333(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: INTERACTION WITH LSM11
tissue: Cervix carcinoma.
21.

"Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress."
Hua Y. , Zhou J.
Biochem. Biophys. Res. Commun.314:268-276(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: SUBUNIT;INTERACTION WITH RPP20/POP7;SUBCELLULAR LOCATION;MUTAGENESIS OF GLU-134;CHARACTERIZATION OF VARIANTS SMA1 CYS-272 AND VAL-279;CHARACTERIZATION OF VARIANT SMA2 AND SMA3 ILE-274;CHARACTERIZATION OF VARIANT SMA3 ILE-262
22.

"Toward an assembly line for U7 snRNPs: interactions of U7-specific Lsm proteins with PRMT5 and SMN complexes."
Azzouz T.N. , Pillai R.S. , Dapp C. , Chari A. , Meister G. , Kambach C. , Fischer U. , Schuemperli D.
J. Biol. Chem.280:34435-34440(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 LSM10; LSM11 AND SNRPB
23.

"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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-28 AND SER-31;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Cervix carcinoma.
24.

"Toward a global characterization of the phosphoproteome in prostate cancer cells: identification of phosphoproteins in the LNCaP cell line."
Giorgianni F. , Zhao Y. , Desiderio D.M. , Beranova-Giorgianni S.
Electrophoresis28:2027-2034(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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-28 AND SER-31;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Prostate cancer.
25.

"An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs."
Chari A. , Golas M.M. , Klingenhager M. , Neuenkirchen N. , Sander B. , Englbrecht C. , Sickmann A. , Stark H. , Fischer U.
Cell135:497-509(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: FUNCTION IN SNRNP BIOGENESIS;IDENTIFICATION IN SMN-SM COMPLEX
26.

"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
Daub H. , Olsen J.V. , Bairlein M. , Gnad F. , Oppermann F.S. , Korner R. , Greff Z. , Keri G. , Stemmann O. , Mann M.
Mol. Cell31:438-448(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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-8; THR-25; SER-28 AND SER-31;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Cervix carcinoma.
27.

"A quantitative atlas of mitotic phosphorylation."
Dephoure N. , Zhou C. , Villen J. , Beausoleil S.A. , Bakalarski C.E. , Elledge S.J. , Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A.105:10762-10767(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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-25; SER-28 AND SER-31;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Cervix carcinoma.
28.

"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: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS]
29.

"Large-scale proteomics analysis of the human kinome."
Oppermann F.S. , Gnad F. , Olsen J.V. , Hornberger R. , Greff Z. , Keri G. , Mann M. , Daub H.
Mol. Cell. Proteomics8:1751-1764(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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-25; SER-28 AND SER-31;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
30.

"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V. , Lundgren D.H. , Hwang S.-I. , Rezaul K. , Wu L. , Eng J.K. , Rodionov V. , Han D.K.
Sci. Signal.2:RA46-RA46(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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-25; SER-28 AND SER-31;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Leukemic T-cell.
31.

"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-28 AND SER-31;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Cervix carcinoma.
32.

"Initial characterization of the human central proteome."
Burkard T.R. , Planyavsky M. , Kaupe I. , Breitwieser F.P. , Buerckstuemmer T. , Bennett K.L. , Superti-Furga G. , Colinge J.
BMC Syst. Biol.5:17-17(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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
33.

"Identification of the phosphorylation sites in the survival motor neuron protein by protein kinase A."
Wu C.Y. , Curtis A. , Choi Y.S. , Maeda M. , Xu M.J. , Berg A. , Joneja U. , Mason R.W. , Lee K.H. , Wang W.
Biochim. Biophys. Acta1814:1134-1139(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: PHOSPHORYLATION AT SER-4; SER-5; SER-8; THR-85 AND SER-187 BY PKA
34.

"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T. , Prokhorova T.A. , Akimov V. , Henningsen J. , Johansen P.T. , Kratchmarova I. , Kassem M. , Mann M. , Olsen J.V. , Blagoev B.
Sci. Signal.4:RS3-RS3(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: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2;PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-4; SER-5; SER-8 AND SER-28;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
35.

"An SMN-dependent U12 splicing event essential for motor circuit function."
Lotti F. , Imlach W.L. , Saieva L. , Beck E.S. , Hao le T. , Li D.K. , Jiao W. , Mentis G.Z. , Beattie C.E. , McCabe B.D. , Pellizzoni L.
Cell151:440-454(2012) [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
36.

"Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
Bienvenut W.V. , Sumpton D. , Martinez A. , Lilla S. , Espagne C. , Meinnel T. , Giglione C.
Mol. Cell. Proteomics11:M111.015131-M111.015131(2012) [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: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
37.

"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P. , Lasa M. , Polevoda B. , Gazquez C. , Elosegui-Artola A. , Kim D.S. , De Juan-Pardo E. , Demeyer K. , Hole K. , Larrea E. , Timmerman E. , Prieto J. , Arnesen T. , Sherman F. , Gevaert K. , Aldabe R.
Proc. Natl. Acad. Sci. U.S.A.109:12449-12454(2012) [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: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
38.

"SMN tudor domain structure and its interaction with the Sm proteins."
Selenko P. , Sprangers R. , Stier G. , Buhler D. , Fischer U. , Sattler M.
Nat. Struct. Biol.8:27-31(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: STRUCTURE BY NMR OF 82-169
39.

"Structural basis for dimethylarginine recognition by the Tudor domains of human SMN and SPF30 proteins."
Tripsianes K. , Madl T. , Machyna M. , Fessas D. , Englbrecht C. , Fischer U. , Neugebauer K.M. , Sattler M.
Nat. Struct. Mol. Biol.18:1414-1420(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: STRUCTURE BY NMR OF 84-147 IN COMPLEX WITH DIMETHYLATED ARGININE
40.

"Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?"
Talbot K. , Ponting C.P. , Theodosiou A.M. , Rodriques N.R. , Surtees R. , Mountford R. , Davies K.E.
Hum. Mol. Genet.6:497-500(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 SMA1 VAL-279
41.

"Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA)."
Hahnen E. , Schoenling J. , Rudnik-Schoeneborn S. , Raschke H. , Zerres K. , Wirth B.
Hum. Mol. Genet.6:821-825(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 SMA3 ILE-262;VARIANT SMA2/SMA3 ILE-274
42.

"Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7."
Rochette C.F. , Surh L.C. , Ray P.N. , McAndrew P.E. , Prior T.W. , Burghes A.H.M. , Vanasse M. , Simard L.R.
Neurogenetics1:141-147(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 SMA3 LEU-245;VARIANT SMA1 CYS-272
43.

"Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number."
Parsons D.W. , McAndrew P.E. , Iannaccone S.T. , Mendell J.R. , Burghes A.H. , Prior T.W.
Am. J. Hum. Genet.63:1712-1723(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 SMA2/SMA3 GLY-2;VARIANT SMA3 SER-275
44.

"Identification of a novel missense mutation of the smnt gene in two siblings with spinal muscular atrophy."
Wang C.H. , Papendick B.D. , Bruinsma P. , Day J.K.
Neurogenetics1:273-276(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 SMA2/SMA3 CYS-279
45.

"Detection of novel mutations in the SMN Tudor domain in type I SMA patients."
Cusco I. , Barcelo M.J. , del Rio E. , Baiget M. , Tizzano E.F.
Neurology63:146-149(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 SMA1 PHE-116 AND GLU-136
46.

"Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy."
Sun Y. , Grimmler M. , Schwarzer V. , Schoenen F. , Fischer U. , Wirth B.
Hum. Mutat.25:64-71(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 SMA1/SMA2/SMA3 ASN-30; VAL-44; ARG-95; GLY-111; GLY-262; CYS-272 AND ILE-274;CHARACTERIZATION OF VARIANTS SMA1/SMA2/SMA3 ASN-30; VAL-44; ARG-95 AND GLY-111

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