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: SMA: H273R

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: H273R

PubMed Link: 34181727

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: H273R

PubMed Link: 33754639

Variant Present in the following documents:

• Main text
• gkab158.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: 818A>G; H273R

PubMed Link: 32954327

Variant Present in the following documents:

• fcaa075.pdf
• fcaa075_supplementary_data.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: His273Arg

PubMed Link: 28570645

Variant Present in the following documents:

• pone.0178519.s002.pdf

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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: H273R

PubMed Link: 23022347

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: H273R

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: H273R

PubMed Link: 19343312

Variant Present in the following documents:

• Main text

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