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What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective.
Blatnik, Anton J; McGovern, Vicki L; Burghes, Arthur H M.
Afiliação
  • Blatnik AJ; Department of Biological Chemistry & Pharmacology, The Ohio State University Wexner Medical Center, Rightmire Hall, Room 168, 1060 Carmack Road, Columbus, OH 43210, USA.
  • McGovern VL; Department of Biological Chemistry & Pharmacology, The Ohio State University Wexner Medical Center, Rightmire Hall, Room 168, 1060 Carmack Road, Columbus, OH 43210, USA.
  • Burghes AHM; Department of Biological Chemistry & Pharmacology, The Ohio State University Wexner Medical Center, Rightmire Hall, Room 168, 1060 Carmack Road, Columbus, OH 43210, USA.
Int J Mol Sci ; 22(16)2021 Aug 06.
Article em En | MEDLINE | ID: mdl-34445199
Proximal spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder characterized by motor neuron loss and subsequent atrophy of skeletal muscle. SMA is caused by deficiency of the essential survival motor neuron (SMN) protein, canonically responsible for the assembly of the spliceosomal small nuclear ribonucleoproteins (snRNPs). Therapeutics aimed at increasing SMN protein levels are efficacious in treating SMA. However, it remains unknown how deficiency of SMN results in motor neuron loss, resulting in many reported cellular functions of SMN and pathways affected in SMA. Herein is a perspective detailing what genetics and biochemistry have told us about SMA and SMN, from identifying the SMA determinant region of the genome, to the development of therapeutics. Furthermore, we will discuss how genetics and biochemistry have been used to understand SMN function and how we can determine which of these are critical to SMA moving forward.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Animals / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Animals / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article