Publications:

---

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: SMN1: 836G>T; Gly279Val

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

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: G279V

PubMed Link: 35205250

Variant Present in the following documents:

• Main text
• genes-13-00205.pdf

View BVdb publication page

---

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: 836G>T; G279V

PubMed Link: 32954327

Variant Present in the following documents:

• fcaa075_supplementary_data.pdf
• fcaa075.pdf

View BVdb publication page

---

Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China.

Bmc Medical Genetics

Sun, Yingjie Y; Kong, Xiangdong X; Zhao, Zhenhua Z; Zhao, Xuechao X

Publication Date: 2020-06-18

Variant appearance in text: SMA: 836G>T

PubMed Link: 32552676

Variant Present in the following documents:

• 12881_2020_Article_1069.pdf

View BVdb publication page

---

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: G279V

PubMed Link: 30602777

Variant Present in the following documents:

• 41467_2018_7709_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

---

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: G279V

PubMed Link: 28570645

Variant Present in the following documents:

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

View BVdb publication page

---

Genotype-Phenotype Correlation of SMN1 and NAIP Deletions in Korean Patients with Spinal Muscular Atrophy.

Journal Of Clinical Neurology (Seoul, Korea)

Ahn, Eun Ji EJ; Yum, Mi Sun MS; Kim, Eun Hee EH; Yoo, Han Wook HW; Lee, Beom Hee BH; Kim, Gu Hwan GH; Ko, Tae Sung TS

Publication Date: 2017-01

Variant appearance in text: SMN1: 836G>T

PubMed Link: 27730768

Variant Present in the following documents:

• Main text
• jcn-13-27.pdf

View BVdb publication page

---

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: G279V

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

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: G279V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

---

Oligomeric Properties of Survival Motor Neuron·Gemin2 Complexes.

The Journal Of Biological Chemistry

Gupta, Kushol K; Martin, Renee R; Sharp, Robert R; Sarachan, Kathryn L KL; Ninan, Nisha S NS; Van Duyne, Gregory D GD

Publication Date: 2015-08-14

Variant appearance in text: SMA: G279V

PubMed Link: 26092730

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The E3 ubiquitin ligase mind bomb 1 ubiquitinates and promotes the degradation of survival of motor neuron protein.

Molecular Biology Of The Cell

Kwon, Deborah Y DY; Dimitriadi, Maria M; Terzic, Barbara B; Cable, Casey C; Hart, Anne C AC; Chitnis, Ajay A; Fischbeck, Kenneth H KH; Burnett, Barrington G BG

Publication Date: 2013-06

Variant appearance in text: SMN1: G279V

PubMed Link: 23615451

Variant Present in the following documents:

• Main text
• 1863.pdf

View BVdb publication page

---

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: G279V

PubMed Link: 23022347

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: G279V

PubMed Link: 21389246

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: G279V

PubMed Link: 21209906

Variant Present in the following documents:

• Main text
• pone.0015769.pdf

View BVdb publication page

---

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: G279V

PubMed Link: 19584893

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: G279V

PubMed Link: 19343312

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice.

Human Molecular Genetics

Workman, Eileen E; Saieva, Luciano L; Carrel, Tessa L TL; Crawford, Thomas O TO; Liu, Don D; Lutz, Cathleen C; Beattie, Christine E CE; Pellizzoni, Livio L; Burghes, Arthur H M AH

Publication Date: 2009-06-15

Variant appearance in text: SMA: G279V

PubMed Link: 19329542

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo.

Human Molecular Genetics

Heier, Christopher R CR; DiDonato, Christine J CJ

Publication Date: 2009-04-01

Variant appearance in text: SMA: G279V

PubMed Link: 19150990

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: G279V

PubMed Link: 19103745

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: G279V

PubMed Link: 17065443

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: G279V

PubMed Link: 16301532

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: G279V

PubMed Link: 12021369

Variant Present in the following documents:

• Main text

View BVdb publication page

---