Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: SMN1: 815A>G; Tyr272Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: SMN1: 815A>G; Tyr272Cys

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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Newborn screening for spinal muscular atrophy in Japan: One year of experience.

Molecular Genetics And Metabolism Reports

Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Yoshida, Shinichiro S; Ozasa, Shiro S; Nomura, Keiko K; Okada, Kentaro K; Fujiyama, Natsumi N; Nakamura, Kimitoshi K

Publication Date: 2022-09

Variant appearance in text: SMN1: 815A>G

PubMed Link: 35942129

Variant Present in the following documents:

• Main text
• main.pdf

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Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy.

Genes

Niba, Emma Tabe Eko ETE; Nishio, Hisahide H; Wijaya, Yogik Onky Silvana YOS; Ar Rochmah, Mawaddah M; Takarada, Toru T; Takeuchi, Atsuko A; Kimizu, Tomokazu T; Okamoto, Kentaro K; Saito, Toshio T; Awano, Hiroyuki H; Takeshima, Yasuhiro Y; Shinohara, Masakazu M

Publication Date: 2022-01-24

Variant appearance in text: SMN1: Y272C

PubMed Link: 35205250

Variant Present in the following documents:

• Main text
• genes-13-00205.pdf

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Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.

Scientific Reports

Boemer, François F; Caberg, Jean-Hubert JH; Beckers, Pablo P; Dideberg, Vinciane V; di Fiore, Samantha S; Bours, Vincent V; Marie, Sandrine S; Dewulf, Joseph J; Marcelis, Lionel L; Deconinck, Nicolas N; Daron, Aurore A; Blasco-Perez, Laura L; Tizzano, Eduardo E; Hiligsmann, Mickaël M; Lombet, Jacques J; Pereira, Tatiana T; Lopez-Granados, Lucia L; Shalchian-Tehran, Sarvnaz S; van Assche, Véronique V; Willems, Arabelle A; Huybrechts, Sofie S; Mast, Bénédicte B; van Olden, Rudolf R; Dangouloff, Tamara T; Servais, Laurent L

Publication Date: 2021-10-07

Variant appearance in text: SMN1: 815A>G

PubMed Link: 34620959

Variant Present in the following documents:

• Main text
• 41598_2021_Article_99496.pdf

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Assembly of higher-order SMN oligomers is essential for metazoan viability and requires an exposed structural motif present in the YG zipper dimer.

Nucleic Acids Research

Gupta, Kushol K; Wen, Ying Y; Ninan, Nisha S NS; Raimer, Amanda C AC; Sharp, Robert R; Spring, Ashlyn M AM; Sarachan, Kathryn L KL; Johnson, Meghan C MC; Van Duyne, Gregory D GD; Matera, A Gregory AG

Publication Date: 2021-07-21

Variant appearance in text: SMA: Y272C

PubMed Link: 34181727

Variant Present in the following documents:

• Main text

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SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals.

Frontiers In Neurology

Bowen, B Monica BM; Truty, Rebecca R; Aradhya, Swaroop S; Bristow, Sara L SL; Johnson, Britt A BA; Morales, Ana A; Tan, Christopher A CA; Westbrook, M Jody MJ; Winder, Thomas L TL; Chavez, Juan C JC

Publication Date: 2021

Variant appearance in text: SMN1: Tyr272Cys

PubMed Link: 34025568

Variant Present in the following documents:

• Main text
• fneur-12-663911.pdf

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Identification and structural analysis of the Schizosaccharomyces pombe SMN complex.

Nucleic Acids Research

Veepaschit, Jyotishman J; Viswanathan, Aravindan A; Bordonné, Rémy R; Grimm, Clemens C; Fischer, Utz U

Publication Date: 2021-07-21

Variant appearance in text: SMA: Y272C

PubMed Link: 33754639

Variant Present in the following documents:

• Main text
• gkab158.pdf

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Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.

Human Mutation

Blasco-Pérez, Laura L; Paramonov, Ida I; Leno, Jordi J; Bernal, Sara S; Alias, Laura L; Fuentes-Prior, Pablo P; Cuscó, Ivon I; Tizzano, Eduardo F EF

Publication Date: 2021-06

Variant appearance in text: SMN1: 815A>G

PubMed Link: 33739559

Variant Present in the following documents:

• Main text
• HUMU-42-787.pdf

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Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance.

The Application Of Clinical Genetics

Keinath, Melissa C MC; Prior, Devin E DE; Prior, Thomas W TW

Publication Date: 2021

Variant appearance in text: SMN1: Tyr272Cys

PubMed Link: 33531827

Variant Present in the following documents:

• Main text
• tacg-14-11.pdf

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Genetic screening method for analyzing survival motor neuron copy number in spinal muscular atrophy by multiplex ligation-dependent probe amplification and droplet digital polymerase chain reaction.

Chinese Medical Journal

Hong, Jing-Mei JM; Zhao, Miao M; He, Jin J; Huang, Xue-Jing XJ; Zhao, Zhi-Yuan ZY; Chen, Wan-Jin WJ; Wang, Ning N; Li, Jin-Jing JJ

Publication Date: 2020-10-20

Variant appearance in text: SMN1: 815A>G

PubMed Link: 32960844

Variant Present in the following documents:

• cm9-133-2510-s001.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: SMN1: 815A>G; Tyr272Cys

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Genomics, Proteomics & Bioinformatics

Sun, Jing J; Zhang, Yanfang Y; Wang, Minhui M; Guan, Qian Q; Yang, Xiujia X; Ou, Jin Xia JX; Yan, Mingchen M; Wang, Chengrui C; Zhang, Yan Y; Li, Zhi-Hao ZH; Lan, Chunhong C; Mao, Chen C; Zhou, Hong-Wei HW; Hao, Bingtao B; Zhang, Zhenhai Z

Publication Date: 2020-10

Variant appearance in text: SMN1: 815A>G; Tyr272Cys

PubMed Link: 32827758

Variant Present in the following documents:

• mmc12.xlsx, sheet 1

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Comprehensive Modeling of Spinal Muscular Atrophy in Drosophila melanogaster.

Frontiers In Molecular Neuroscience

Spring, Ashlyn M AM; Raimer, Amanda C AC; Hamilton, Christine D CD; Schillinger, Michela J MJ; Matera, A Gregory AG

Publication Date: 2019

Variant appearance in text: SMA: Y272C

PubMed Link: 31156382

Variant Present in the following documents:

• Main text
• fnmol-12-00113.pdf

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Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.

Nature Communications

, ; Del-Toro, N N; Duesbury, M M; Koch, M M; Perfetto, L L; Shrivastava, A A; Ochoa, D D; Wagih, O O; Piñero, J J; Kotlyar, M M; Pastrello, C C; Beltrao, P P; Furlong, L I LI; Jurisica, I I; Hermjakob, H H; Orchard, S S; Porras, P P

Publication Date: 2019-01-02

Variant appearance in text: SMA1: Y272C

PubMed Link: 30602777

Variant Present in the following documents:

• 41467_2018_7709_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular Factors Involved in Spinal Muscular Atrophy Pathways as Possible Disease-modifying Candidates.

Current Genomics

Maretina, Marianna A MA; Zheleznyakova, Galina Y GY; Lanko, Kristina M KM; Egorova, Anna A AA; Baranov, Vladislav S VS; Kiselev, Anton V AV

Publication Date: 2018-08

Variant appearance in text: SMA: Y272C

PubMed Link: 30065610

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study.

Plos One

Chabanon, Aurélie A; Seferian, Andreea Mihaela AM; Daron, Aurore A; Péréon, Yann Y; Cances, Claude C; Vuillerot, Carole C; De Waele, Liesbeth L; Cuisset, Jean-Marie JM; Laugel, Vincent V; Schara, Ulrike U; Gidaro, Teresa T; Gilabert, Stéphanie S; Hogrel, Jean-Yves JY; Baudin, Pierre-Yves PY; Carlier, Pierre P; Fournier, Emmanuel E; Lowes, Linda Pax LP; Hellbach, Nicole N; Seabrook, Timothy T; Toledano, Elie E; Annoussamy, Mélanie M; Servais, Laurent L; ,

Publication Date: 2018

Variant appearance in text: SMA: 815A>G

PubMed Link: 30048507

Variant Present in the following documents:

• Main text
• pone.0201004.pdf

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How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?

Plos One

Li, Wei W

Publication Date: 2017

Variant appearance in text: SMN1: Tyr272Cys

PubMed Link: 28570645

Variant Present in the following documents:

• pone.0178519.s002.pdf

View BVdb publication page

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Applicability of digital PCR to the investigation of pediatric-onset genetic disorders.

Biomolecular Detection And Quantification

Butchbach, Matthew E R ME

Publication Date: 2016-12

Variant appearance in text: SMN1: Y272C

PubMed Link: 27990344

Variant Present in the following documents:

• Main text
• main.pdf

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SMN and coilin negatively regulate dyskerin association with telomerase RNA.

Biology Open

Poole, Aaron R AR; Hebert, Michael D MD

Publication Date: 2016-06-15

Variant appearance in text: SMA: Y272C

PubMed Link: 27215323

Variant Present in the following documents:

• Main text
• biolopen-5-018804.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: SMA2: Y272C

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Tongue fasciculations in an infant with spinal muscular atrophy type 1.

Clinical Case Reports

Giannopoulou, Eleni Z EZ; Martin, Thomas T; Wirth, Brunhilde B; Yilmaz, Umut U; Gortner, Ludwig L; Meyer, Sascha S

Publication Date: 2015-10

Variant appearance in text: SMN1: 815A>G

PubMed Link: 26509018

Variant Present in the following documents:

• Main text
• ccr30003-0832.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SMN1: Y272C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

Jama Neurology

Ripolone, Michela M; Ronchi, Dario D; Violano, Raffaella R; Vallejo, Dionis D; Fagiolari, Gigliola G; Barca, Emanuele E; Lucchini, Valeria V; Colombo, Irene I; Villa, Luisa L; Berardinelli, Angela A; Balottin, Umberto U; Morandi, Lucia L; Mora, Marina M; Bordoni, Andreina A; Fortunato, Francesco F; Corti, Stefania S; Parisi, Daniela D; Toscano, Antonio A; Sciacco, Monica M; DiMauro, Salvatore S; Comi, Giacomo P GP; Moggio, Maurizio M

Publication Date: 2015-06

Variant appearance in text: SMA: 815A>G

PubMed Link: 25844556

Variant Present in the following documents:

• Main text

View BVdb publication page

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SMA-causing missense mutations in survival motor neuron (Smn) display a wide range of phenotypes when modeled in Drosophila.

Plos Genetics

Praveen, Kavita K; Wen, Ying Y; Gray, Kelsey M KM; Noto, John J JJ; Patlolla, Akash R AR; Van Duyne, Gregory D GD; Matera, A Gregory AG

Publication Date: 2014-08

Variant appearance in text: SMA: Y272C

PubMed Link: 25144193

Variant Present in the following documents:

• Main text
• pgen.1004489.pdf

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The E3 ubiquitin ligase mind bomb 1 ubiquitinates and promotes the degradation of survival of motor neuron protein.

Molecular Biology Of The Cell

Kwon, Deborah Y DY; Dimitriadi, Maria M; Terzic, Barbara B; Cable, Casey C; Hart, Anne C AC; Chitnis, Ajay A; Fischbeck, Kenneth H KH; Burnett, Barrington G BG

Publication Date: 2013-06

Variant appearance in text: SMA: Y272C

PubMed Link: 23615451

Variant Present in the following documents:

• Main text

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The survival motor neuron protein forms soluble glycine zipper oligomers.

Structure (London, England : 1993)

Martin, Renee R; Gupta, Kushol K; Ninan, Nisha S NS; Perry, Kay K; Van Duyne, Gregory D GD

Publication Date: 2012-11-07

Variant appearance in text: SMA: Y272C

PubMed Link: 23022347

Variant Present in the following documents:

• Main text

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Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7.

Bmc Medical Genetics

Yu-Jin, Qu Q; Juan, Du D; Er-zhen, Li L; Jin-li, Bai B; Yu-wei, Jin J; Hong, Wang W; Fang, Song S

Publication Date: 2012-09-20

Variant appearance in text: SMA: Tyr272Cys

PubMed Link: 22994313

Variant Present in the following documents:

• Main text
• 1471-2350-13-86.pdf

View BVdb publication page

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A Drosophila model of spinal muscular atrophy uncouples snRNP biogenesis functions of survival motor neuron from locomotion and viability defects.

Cell Reports

Praveen, Kavita K; Wen, Ying Y; Matera, A Gregory AG

Publication Date: 2012-06-28

Variant appearance in text: SMA: Y272C

PubMed Link: 22813737

Variant Present in the following documents:

• Main text

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Molecular determinants of survival motor neuron (SMN) protein cleavage by the calcium-activated protease, calpain.

Plos One

Fuentes, Jennifer L JL; Strayer, Molly S MS; Matera, A Gregory AG

Publication Date: 2010-12-30

Variant appearance in text: SMA: Y272C

PubMed Link: 21209906

Variant Present in the following documents:

• Main text
• pone.0015769.pdf

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Antisense oligonucleotides and spinal muscular atrophy: skipping along.

Genes & Development

Burghes, Arthur H M AH; McGovern, Vicki L VL

Publication Date: 2010-08-01

Variant appearance in text: SMN1: Y272C

PubMed Link: 20679391

Variant Present in the following documents:

• Main text

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Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

Nature Reviews. Neuroscience

Burghes, Arthur H M AH; Beattie, Christine E CE

Publication Date: 2009-08

Variant appearance in text: SMA: Y272C

PubMed Link: 19584893

Variant Present in the following documents:

• Main text

View BVdb publication page

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Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes.

Results And Problems In Cell Differentiation

Rossoll, Wilfried W; Bassell, Gary J GJ

Publication Date: 2009

Variant appearance in text: SMA: Y272C

PubMed Link: 19343312

Variant Present in the following documents:

• Main text

View BVdb publication page

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A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice.

Human Molecular Genetics

Workman, Eileen E; Saieva, Luciano L; Carrel, Tessa L TL; Crawford, Thomas O TO; Liu, Don D; Lutz, Cathleen C; Beattie, Christine E CE; Pellizzoni, Livio L; Burghes, Arthur H M AH

Publication Date: 2009-06-15

Variant appearance in text: SMA: Y272C

PubMed Link: 19329542

Variant Present in the following documents:

• Main text

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Regulation of SMN protein stability.

Molecular And Cellular Biology

Burnett, Barrington G BG; Muñoz, Eric E; Tandon, Animesh A; Kwon, Deborah Y DY; Sumner, Charlotte J CJ; Fischbeck, Kenneth H KH

Publication Date: 2009-03

Variant appearance in text: SMN1: Y272C

PubMed Link: 19103745

Variant Present in the following documents:

• Main text

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Identification and characterization of the porcine (Sus scrofa) survival motor neuron (SMN1) gene: an animal model for therapeutic studies.

Developmental Dynamics : An Official Publication Of The American Association Of Anatomists

Lorson, Monique A MA; Spate, Lee D LD; Prather, Randall S RS; Lorson, Christian L CL

Publication Date: 2008-08

Variant appearance in text: SMA: Y272C

PubMed Link: 18651653

Variant Present in the following documents:

• Main text

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Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect.

Human Molecular Genetics

Gavrilina, Tatiana O TO; McGovern, Vicki L VL; Workman, Eileen E; Crawford, Thomas O TO; Gogliotti, Rocky G RG; DiDonato, Christine J CJ; Monani, Umrao R UR; Morris, Glenn E GE; Burghes, Arthur H M AH

Publication Date: 2008-04-15

Variant appearance in text: SMA: Y272C

PubMed Link: 18178576

Variant Present in the following documents:

• Main text

View BVdb publication page

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SMN protects cells against mutant SOD1 toxicity by increasing chaperone activity.

Biochemical And Biophysical Research Communications

Zou, Tie T; Ilangovan, Raju R; Yu, Furong F; Xu, Zuoshang Z; Zhou, Jianhua J

Publication Date: 2007-12-28

Variant appearance in text: SMA: Y272C

PubMed Link: 17964281

Variant Present in the following documents:

• Main text

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Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Carrel, Tessa L TL; McWhorter, Michelle L ML; Workman, Eileen E; Zhang, Honglai H; Wolstencroft, Elizabeth C EC; Lorson, Christian C; Bassell, Gary J GJ; Burghes, Arthur H M AH; Beattie, Christine E CE

Publication Date: 2006-10-25

Variant appearance in text: SMA: Y272C

PubMed Link: 17065443

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gemin proteins are required for efficient assembly of Sm-class ribonucleoproteins.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Shpargel, Karl B KB; Matera, A Gregory AG

Publication Date: 2005-11-29

Variant appearance in text: SMA: Y272C

PubMed Link: 16301532

Variant Present in the following documents:

• Main text

View BVdb publication page

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Minute virus of mice small nonstructural protein NS2 interacts and colocalizes with the Smn protein.

Journal Of Virology

Young, Philip J PJ; Jensen, Klaus T KT; Burger, Lisa R LR; Pintel, David J DJ; Lorson, Christian L CL

Publication Date: 2002-06

Variant appearance in text: SMA: Y272C

PubMed Link: 12021369

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional cooperation of Epstein-Barr virus nuclear antigen 2 and the survival motor neuron protein in transactivation of the viral LMP1 promoter.

Journal Of Virology

Voss, M D MD; Hille, A A; Barth, S S; Spurk, A A; Hennrich, F F; Holzer, D D; Mueller-Lantzsch, N N; Kremmer, E E; Grässer, F A FA

Publication Date: 2001-12

Variant appearance in text: SMA: Y272C

PubMed Link: 11689659

Variant Present in the following documents:

• Main text

View BVdb publication page

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Survival motor neuron protein modulates neuron-specific apoptosis.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Kerr, D A DA; Nery, J P JP; Traystman, R J RJ; Chau, B N BN; Hardwick, J M JM

Publication Date: 2000-11-21

Variant appearance in text: SMA: Y272C

PubMed Link: 11078511

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems.

The Journal Of Cell Biology

Charroux, B B; Pellizzoni, L L; Perkinson, R A RA; Shevchenko, A A; Mann, M M; Dreyfuss, G G

Publication Date: 1999-12-13

Variant appearance in text: SMA: Y272C

PubMed Link: 10601333

Variant Present in the following documents:

• 9909005.pdf

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