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: A111G

PubMed Link: 36882285

Variant Present in the following documents:

• LSA-2022-01752.pdf

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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: 332C>G; Ala111Gly

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: SMN1: 332C>G; Ala111Gly

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4
• pcbi.1010013.s002.xlsx, sheet 2

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Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development.

International Journal Of Molecular Sciences

Butchbach, Matthew E R MER

Publication Date: 2021-07-23

Variant appearance in text: SMN1: A111G

PubMed Link: 34360669

Variant Present in the following documents:

• Main text

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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: A111G

PubMed Link: 33754639

Variant Present in the following documents:

• Main text
• gkab158.pdf

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Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice.

Human Molecular Genetics

McGovern, Vicki L VL; Kray, Kaitlyn M KM; Arnold, W David WD; Duque, Sandra I SI; Iyer, Chitra C CC; Massoni-Laporte, Aurélie A; Workman, Eileen E; Patel, Aalapi A; Battle, Daniel J DJ; Burghes, Arthur H M AHM

Publication Date: 2020-11-01

Variant appearance in text: SMA: A111G

PubMed Link: 33084884

Variant Present in the following documents:

• Main text

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Conditional deletion of SMN in cell culture identifies functional SMN alleles.

Human Molecular Genetics

Blatnik, Anton J AJ; McGovern, Vicki L VL; Le, Thanh T TT; Iyer, Chitra C CC; Kaspar, Brian K BK; Burghes, Arthur H M AHM

Publication Date: 2020-11-01

Variant appearance in text: SMN1: A111G

PubMed Link: 33075805

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 332C>G; A111G

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: 332C>G; Ala111Gly

PubMed Link: 32827758

Variant Present in the following documents:

• mmc12.xlsx, sheet 1

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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: SMN1: A111G

PubMed Link: 30065610

Variant Present in the following documents:

• Main text
• CG-19-339.pdf

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Mild SMN missense alleles are only functional in the presence of SMN2 in mammals.

Human Molecular Genetics

Iyer, Chitra C CC; Corlett, Kaitlyn M KM; Massoni-Laporte, Aurélie A; Duque, Sandra I SI; Madabusi, Narasimhan N; Tisdale, Sarah S; McGovern, Vicki L VL; Le, Thanh T TT; Zaworski, Phillip G PG; Arnold, W David WD; Pellizzoni, Livio L; Burghes, Arthur H M AHM

Publication Date: 2018-10-01

Variant appearance in text: SMA: A111G

PubMed Link: 29982416

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: A111G

PubMed Link: 28570645

Variant Present in the following documents:

• Main text
• pone.0178519.pdf
• pone.0178519.s002.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: A111G

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: A111G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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GEMINs: potential therapeutic targets for spinal muscular atrophy?

Frontiers In Neuroscience

Borg, Rebecca R; Cauchi, Ruben J RJ

Publication Date: 2014

Variant appearance in text: SMA: A111G

PubMed Link: 25360080

Variant Present in the following documents:

• Main text

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SMN control of RNP assembly: from post-transcriptional gene regulation to motor neuron disease.

Seminars In Cell & Developmental Biology

Li, Darrick K DK; Tisdale, Sarah S; Lotti, Francesco F; Pellizzoni, Livio L

Publication Date: 2014-08

Variant appearance in text: SMA: A111G

PubMed Link: 24769255

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: SMN1: A111G

PubMed Link: 23022347

Variant Present in the following documents:

• Main text

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Spinal muscular atrophy: the role of SMN in axonal mRNA regulation.

Brain Research

Fallini, Claudia C; Bassell, Gary J GJ; Rossoll, Wilfried W

Publication Date: 2012-06-26

Variant appearance in text: SMA: A111G

PubMed Link: 22330725

Variant Present in the following documents:

• Main text

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The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy.

Disease Models & Mechanisms

Sleigh, James N JN; Gillingwater, Thomas H TH; Talbot, Kevin K

Publication Date: 2011-07

Variant appearance in text: SMN1: A111G

PubMed Link: 21708901

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: A111G

PubMed Link: 21209906

Variant Present in the following documents:

• Main text
• pone.0015769.pdf

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Spinal muscular atrophy: new and emerging insights from model mice.

Current Neurology And Neuroscience Reports

Park, Gyu-Hwan GH; Kariya, Shingo S; Monani, Umrao R UR

Publication Date: 2010-03

Variant appearance in text: SMA: A111G

PubMed Link: 20425235

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: A111G

PubMed Link: 19343312

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: A111G

PubMed Link: 18651653

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: A111G

PubMed Link: 17065443

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: A111G

PubMed Link: 16301532

Variant Present in the following documents:

• Main text

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