Advances in gene therapy for muscular dystrophies. - PubMed - NCBI

Advances in gene therapy for muscular dystrophies. - PubMed - NCBI

F1000Res. 2016 Aug 18;5. pii: F1000 Faculty Rev-2030. doi: 10.12688/f1000research.8735.1. eCollection 2016.

Advances in gene therapy for muscular dystrophies.

Abdul-Razak H1, Malerba A1, Dickson G1.

Author information

Abstract

Duchenne muscular dystrophy (DMD) is a recessive lethal inherited muscular dystrophy caused by mutations in the gene encoding dystrophin, a protein required for muscle fibre integrity. So far, many approaches have been tested from the traditional gene addition to newer advanced approaches based on manipulation of the cellular machinery either at the gene transcription, mRNA processing or translation levels. Unfortunately, despite all these efforts, no efficient treatments for DMD are currently available. In this review, we highlight the most advanced therapeutic strategies under investigation as potential DMD treatments.

PMID:

 

27594988

 

PMCID:

 

PMC4991540

 

DOI:

 

10.12688/f1000research.8735.1

[PubMed] 

Free PMC Article

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MUSCULAR DYSTROPHY

Last Updated: Sep 22, 2016

• FDA commissioner calls for Sarepta drug study to be retracted
  StatNews, September 22, 2016
• Advances in gene therapy for muscular dystrophies.
  Abdul-Razak Hayder et al. F1000Research 2016 5
• Current and emerging treatment strategies for Duchenne muscular dystrophy.
  Mah Jean K et al. Neuropsychiatric disease and treatment 2016 121795-807
• FDA approves Sarepta’s controversial drug for Duchenne muscular dystrophy
  E Silverman, Stat News, September 19, 2016
• For two brothers with Duchenne, an FDA drug approval brings joy and relief
  J Delviscio, StatNews, September 20, 2016
• Sarepta to charge $300K for Duchenne drug. ‘We tried to be reasonable,’ CEO says
  E Silverman, StatNews, September 19, 2016
• Large copy-number variations in patients with statin-associated myopathy affecting statin myopathy-related loci.
  Stránecký V, et al. Physiological research / Academia Scientiarum Bohemoslovaca 2016 8
• Twenty-year follow-up of newborn screening for patients with muscular dystrophy.
  Chung Jeffrey et al. Muscle & nerve 2016 Apr 53(4) 570-8
• "Target" and "Sandwich" Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies.
  Fu Jun, et al. Chinese medical journal 0 0 (15) 1811-1816
• Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.
  Kitamura Yuri, et al. Journal of human genetics 2016 6
• [Haplotype Analysis of Oculopharyngeal Muscular Dystrophy (OPMD) Locus in Yakutia].
  Marusin A V, et al. Genetika 2016 3 (3) 376-84
• Duchenne muscular dystrophy in the Western Cape, South Africa: Where do we come from and where are we going?
  Esterhuizen A I et al. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2016 106(6) 10999
• Survey on genetic counseling and health management for symptomatic and asymptomatic female dystrophinopathy carriers in Japan today.
  Kobayashi Michio et al. Rinsho shinkeigaku = Clinical neurology 2016 May
• Why Do Parents Want to Know their Child's Carrier Status? A Qualitative Study.
  Vears Danya F et al. Journal of genetic counseling 2016 May
• The emerging role of viral vectors as vehicles for DMD gene editing
  I Maggio et al, May 23, 2016

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Relevant Resources

• Cancer Genomics and Epidemiology Navigator (CGEN)
• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB