Publications:

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What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective.

International Journal Of Molecular Sciences

Blatnik, Anton J AJ; McGovern, Vicki L VL; Burghes, Arthur H M AHM

Publication Date: 2021-08-06

Variant appearance in text: SMNT: T274I

PubMed Link: 34445199

Variant Present in the following documents:

• Main text
• ijms-22-08494.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: T274I

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: SMA: Thr274Ile

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: T274I

PubMed Link: 33754639

Variant Present in the following documents:

• Main text
• gkab158.pdf

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Advances in Newborn Screening and Presymptomatic Diagnosis of Spinal Muscular Atrophy.

Degenerative Neurological And Neuromuscular Disease

Jędrzejowska, Maria M

Publication Date: 2020

Variant appearance in text: SMN1: T274I

PubMed Link: 33364872

Variant Present in the following documents:

• Main text
• dnnd-10-39.pdf

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Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.

Brain Communications

Wadman, Renske I RI; Jansen, Marc D MD; Stam, Marloes M; Wijngaarde, Camiel A CA; Curial, Chantall A D CAD; Medic, Jelena J; Sodaar, Peter P; Schouten, Jan J; Vijzelaar, Raymon R; Lemmink, Henny H HH; van den Berg, Leonard H LH; Groen, Ewout J N EJN; van der Pol, W Ludo WL

Publication Date: 2020

Variant appearance in text: SMN1: 821C>T; T274I

PubMed Link: 32954327

Variant Present in the following documents:

• fcaa075.pdf
• fcaa075_supplementary_data.pdf

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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: 821C>T; Thr274Ile

PubMed Link: 32827758

Variant Present in the following documents:

• mmc12.xlsx, sheet 1

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: SMN1: 821C>T; Thr274Ile

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4

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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: SMN1: T274I

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: T274I

PubMed Link: 30602777

Variant Present in the following documents:

• 41467_2018_7709_MOESM6_ESM.xlsx, sheet 1

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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: T274I

PubMed Link: 28570645

Variant Present in the following documents:

• pone.0178519.s002.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: T274I

PubMed Link: 27215323

Variant Present in the following documents:

• Main text
• biolopen-5-018804.pdf

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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: T274I

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: T274I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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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: T274I

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: Thr274Ile

PubMed Link: 22994313

Variant Present in the following documents:

• Main text
• 1471-2350-13-86.pdf

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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: T274I

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: T274I

PubMed Link: 21209906

Variant Present in the following documents:

• Main text
• pone.0015769.pdf

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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: T274I

PubMed Link: 19584893

Variant Present in the following documents:

• Main text

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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: T274I

PubMed Link: 19343312

Variant Present in the following documents:

• Main text

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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: T274I

PubMed Link: 16301532

Variant Present in the following documents:

• Main text

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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: T274I

PubMed Link: 12021369

Variant Present in the following documents:

• Main text

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