Publications:

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The TUDOR domain of SMN is an H3K79me1 histone mark reader.

Life Science Alliance

Binda, Olivier O; Kimenyi Ishimwe, Aimé Boris AB; Galloy, Maxime M; Jacquet, Karine K; Corpet, Armelle A; Fradet-Turcotte, Amélie A; Côté, Jocelyn J; Lomonte, Patrick P

Publication Date: 2023-06

Variant appearance in text: SMA: E134K

PubMed Link: 36882285

Variant Present in the following documents:

• LSA-2022-01752.pdf

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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: E134K

PubMed Link: 36375840

Variant Present in the following documents:

• LSA-2022-01429.pdf

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SMN-deficient cells exhibit increased ribosomal DNA damage.

Life Science Alliance

Karyka, Evangelia E; Berrueta Ramirez, Nelly N; Webster, Christopher P CP; Marchi, Paolo M PM; Graves, Emily J EJ; Godena, Vinay K VK; Marrone, Lara L; Bhargava, Anushka A; Ray, Swagat S; Ning, Ke K; Crane, Hannah H; Hautbergue, Guillaume M GM; El-Khamisy, Sherif F SF; Azzouz, Mimoun M

Publication Date: 2022-08

Variant appearance in text: SMA: E134K

PubMed Link: 35440492

Variant Present in the following documents:

• LSA-2021-01145_review_history.pdf
• LSA-2021-01145.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: 400G>A

PubMed Link: 35205250

Variant Present in the following documents:

• Main text
• genes-13-00205.pdf

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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: SMA: E134K

PubMed Link: 34445199

Variant Present in the following documents:

• Main text

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Sumoylation regulates the assembly and activity of the SMN complex.

Nature Communications

Riboldi, Giulietta M GM; Faravelli, Irene I; Kuwajima, Takaaki T; Delestrée, Nicolas N; Dermentzaki, Georgia G; De Planell-Saguer, Mariangels M; Rinchetti, Paola P; Hao, Le Thi LT; Beattie, Christine C CC; Corti, Stefania S; Przedborski, Serge S; Mentis, George Z GZ; Lotti, Francesco F

Publication Date: 2021-08-19

Variant appearance in text: SMA: E134K

PubMed Link: 34413305

Variant Present in the following documents:

• Main text
• 41467_2021_Article_25272.pdf
• 41467_2021_25272_MOESM2_ESM.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: 400G>A; E134K

PubMed Link: 32954327

Variant Present in the following documents:

• fcaa075_supplementary_data.pdf
• fcaa075.pdf

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HuD and the Survival Motor Neuron Protein Interact in Motoneurons and Are Essential for Motoneuron Development, Function, and mRNA Regulation.

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

Hao le, Thi T; Duy, Phan Q PQ; An, Min M; Talbot, Jared J; Iyer, Chitra C CC; Wolman, Marc M; Beattie, Christine E CE

Publication Date: 2017-11-29

Variant appearance in text: SMA: E134K

PubMed Link: 29061699

Variant Present in the following documents:

• Main text

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SMN regulation in SMA and in response to stress: new paradigms and therapeutic possibilities.

Human Genetics

Dominguez, Catherine E CE; Cunningham, David D; Chandler, Dawn S DS

Publication Date: 2017-09

Variant appearance in text: SMA: E134K

PubMed Link: 28852871

Variant Present in the following documents:

• Main text

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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: SMA: Glu134Lys

PubMed Link: 28570645

Variant Present in the following documents:

• Main text
• pone.0178519.s002.pdf
• pone.0178519.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: E134K

PubMed Link: 27215323

Variant Present in the following documents:

• Main text

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Spliceosome integrity is defective in the motor neuron diseases ALS and SMA.

Embo Molecular Medicine

Tsuiji, Hitomi H; Iguchi, Yohei Y; Furuya, Asako A; Kataoka, Ayane A; Hatsuta, Hiroyuki H; Atsuta, Naoki N; Tanaka, Fumiaki F; Hashizume, Yoshio Y; Akatsu, Hiroyasu H; Murayama, Shigeo S; Sobue, Gen G; Yamanaka, Koji K

Publication Date: 2013-02

Variant appearance in text: SMN1: E134K

PubMed Link: 23255347

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: 400G>A

PubMed Link: 22994313

Variant Present in the following documents:

• Main text
• 1471-2350-13-86.pdf

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Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy.

Brain Research

Workman, Eileen E; Kolb, Stephen J SJ; Battle, Daniel J DJ

Publication Date: 2012-06-26

Variant appearance in text: SMA: E134K

PubMed Link: 22424789

Variant Present in the following documents:

• Main text

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The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons.

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

Fallini, Claudia C; Zhang, Honglai H; Su, Yuehang Y; Silani, Vincenzo V; Singer, Robert H RH; Rossoll, Wilfried W; Bassell, Gary J GJ

Publication Date: 2011-03-09

Variant appearance in text: SMA: E134K

PubMed Link: 21389246

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: E134K

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: E134K

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: E134K

PubMed Link: 19343312

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: E134K

PubMed Link: 19103745

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: E134K

PubMed Link: 16301532

Variant Present in the following documents:

• Main text

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Epstein-Barr virus nuclear antigen 2 binds via its methylated arginine-glycine repeat to the survival motor neuron protein.

Journal Of Virology

Barth, Stephanie S; Liss, Michael M; Voss, Marc D MD; Dobner, Thomas T; Fischer, Utz U; Meister, Gunter G; Grässer, Friedrich A FA

Publication Date: 2003-04

Variant appearance in text: SMA: E134K

PubMed Link: 12663808

Variant Present in the following documents:

• Main text

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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: E134K

PubMed Link: 11689659

Variant Present in the following documents:

• Main text

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