Associated Papers
CRISPR/Cas9 gene editing in muscle-related genetic disorders: Restoring function and exercise capacity.
Wang Y et al.
Tissue & Cell, 2026
A review of recent studies on CRISPR/Cas9-mediated genome editing in a variety of muscle-related genetic disorders.
Lyu G et al.
Journal of Translational Medicine, 2025
Novel insights into the molecular mechanisms of LGMDD2: role of TNPO3 in experimental cell and zebrafish models.
Rodia MT et al.
Cellular and Molecular Life Sciences : Cmls, 2025
Integrative Transcriptomic and Network-Based Analysis of Neuromuscular Diseases.
García-Criado F et al.
International Journal of Molecular Sciences, 2025
CRISPR-Cas9 editing of a TNPO3 mutation in a muscle cell model of limb-girdle muscular dystrophy type D2.
Poyatos-García J et al.
Molecular Therapy. Nucleic Acids, 2023
LGMD D2 TNPO3-Related: From Clinical Spectrum to Pathogenetic Mechanism.
Costa R et al.
Frontiers in Neurology, 2022
Transcriptomic Evidence of the Immune Response Activation in Individuals With Limb Girdle Muscular Dystrophy Dominant 2 (LGMDD2) Contributes to Resistance to HIV-1 Infection.
Diez-Fuertes F et al.
Frontiers in Cell and Developmental Biology, 2022
Inhibition of autophagy rescues muscle atrophy in a LGMDD2 Drosophila model.
Blázquez-Bernal Á et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2021
Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies.
Pegoraro V et al.
Genes, 2021
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L et al.
Genes, 2020
[The TNPO3 mutation that causes LGMD1F induces protection against HIV-1 infection].
Allamand V
Medecine Sciences : M/s, 2019
The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection.
Rodríguez-Mora S et al.
Plos Pathogens, 2019
A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F.
Pál E et al.
European Journal of Medical Genetics, 2019
Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression.
Vihola A et al.
Neurology. Genetics, 2019
A new family with transportinopathy: increased clinical heterogeneity.
Angelini C et al.
Therapeutic Advances in Neurological Disorders, 2019
Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient.
Gibertini S et al.
Acta Neuropathologica Communications, 2018
Incomplete penetrance in limb-girdle muscular dystrophy type 1F.
Fanin M et al.
Muscle & Nerve, 2015
A community-based resource for automatic exome variant-calling and annotation in Mendelian disorders.
Mutarelli M et al.
Bmc Genomics, 2014
Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.
Melià MJ et al.
Brain : a Journal of Neurology, 2013