Publications:

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SMA-linked SMN mutants prevent phase separation properties and SMN interactions with FMRP family members.

Life Science Alliance

Binda, Olivier O; Juillard, Franceline F; Ducassou, Julia Novion JN; Kleijwegt, Constance C; Paris, Geneviève G; Didillon, Andréanne A; Baklouti, Faouzi F; Corpet, Armelle A; Couté, Yohann Y; Côté, Jocelyn J; Lomonte, Patrick P

Publication Date: 2023-01

Variant appearance in text: SMA: G275S

PubMed Link: 36375840

Variant Present in the following documents:

• LSA-2022-01429.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: 823G>A; G275S

PubMed Link: 32954327

Variant Present in the following documents:

• fcaa075_supplementary_data.pdf
• fcaa075.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: G275S

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: Gly275Ser

PubMed Link: 28570645

Variant Present in the following documents:

• pone.0178519.s002.pdf

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Diverse role of survival motor neuron protein.

Biochimica Et Biophysica Acta. Gene Regulatory Mechanisms

Singh, Ravindra N RN; Howell, Matthew D MD; Ottesen, Eric W EW; Singh, Natalia N NN

Publication Date: 2017-03

Variant appearance in text: SMA: G275S

PubMed Link: 28095296

Variant Present in the following documents:

• Main text

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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: G275S

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: G275S

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: G275S

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: Gly275Ser

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: G275S

PubMed Link: 22813737

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: G275S

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: G275S

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: G275S

PubMed Link: 16301532

Variant Present in the following documents:

• Main text

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