Mild SMN missense alleles are only functional in the presence of SMN2 in mammals-Reference-Cited by-同舟云学术

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

Published:2018-08-10 Issue:19 Volume:27 Page:3404-3416
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Iyer Chitra C¹,Corlett Kaitlyn M¹,Massoni-Laporte Aurélie¹,Duque Sandra I¹,Madabusi Narasimhan¹,Tisdale Sarah²³,McGovern Vicki L¹,Le Thanh T¹,Zaworski Phillip G⁴,Arnold W David⁵,Pellizzoni Livio²³,Burghes Arthur H M¹⁵

Affiliation:

1. Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA

2. Center for Motor Neuron Biology and Disease, Columbia University, New York, NY, USA

3. Department of Pathology and Cell Biology, Columbia University, New York, NY, USA

4. PharmOptima, LLC, Portage, MI, USA

5. Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA

Funder

National Institutes of Health

The Marshall Heritage Foundation, Muscular Dystrophy Association

CureSMA

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/27/19/3404/25741205/ddy251.pdf

Reference78 articles.

1. The genetic component in child mortality;Roberts;Arch. Dis. Child.,1970

2. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens;Sugarman;Eur. J. Hum. Genet.,2012

3. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy;Pearn;J. Med. Genet.,1978

4. The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England;Pearn;J. Oral Surg.,1973

5. Identification and characterization of a spinal muscular atrophy-determining gene;Lefebvre;Cell,1995

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. An Hspa8 variant is a shocking modifier of spinal muscular atrophy in mice;Neuron;2023-05

2. A spinal muscular atrophy modifier implicates the SMN protein in SNARE complex assembly at neuromuscular synapses;Neuron;2023-05

3. The phospho-landscape of the survival of motoneuron protein (SMN) protein: relevance for spinal muscular atrophy (SMA);Cellular and Molecular Life Sciences;2022-08-25

4. Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy;Genes;2022-01-24

5. Dual SMN inducing therapies can rescue survival and motor unit function in symptomatic ∆7SMA mice;Neurobiology of Disease;2021-11