Tabelle zur Forschungsliteratur
| Title | DOI / Link | type | year | more |
|---|---|---|---|---|
| Collagen-VI supplementation by cell transplantation improves muscle regeneration in Ullrich congenital muscular dystrophy model mice | 10.1186/s13287-021-02514-3 | therapy | 2021 | |
| Genotype-Phenotype Correlation of the Childhood-Onset Bethlem Myopathy in the Mediterranean Region of Turkey | 10.4103/aian.AIAN_1182_20 | clinical | ||
| Causative variant profile of collagen VI-related dystrophy in Japan | 10.1186/s13023-021-01921-2 | clinical | ||
| Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies | 10.1212/WNL.0000000000011499 | clinical | 2021 | |
| Congenital muscular dystrophy-associated inflammatory chemokines provide axes for effective recruitment of therapeutic adult stem cell into muscles | 10.1186/s13287-020-01979-y | therapy | 2020 | |
| Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene | 10.3233/JND-200476 | clinical | 2021 | |
| Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies | 10.3233/JND-200577 | basic | 2021 | |
| Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy | 10.1093/hmg/ddi025 | basic | 2004 | |
| A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies | 10.1172/jci.insight.124403 | therapy | 2019 | |
| Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability | 10.1002/humu.22691 | basic | 2015 | |
| Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders | 10.1016/j.ejpn.2017.07.009 | basic | 2017 | |
| Base editing repairs an SGCA mutation in human primary muscle stem cells | 10.1172/jci.insight.145994 | therapy | 2021 | |
| The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1-/- myopathic mice | 10.1111/j.1476-5381.2009.00316.x | therapy | 2009 | |
| Debio-025 is more effective than prednisone in reducing muscular pathology in mdx mice | 10.1016/j.nmd.2010.06.016 | therapy | 2010 | |
| Toward the correction of muscular dystrophy by gene editing | 10.1073/pnas.2004840117 | therapy | 2021 | |
| Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies | 10.1002/humu.22429 | basic | 2013 | |
| RNA-based therapeutics for neurological diseases | 10.1080/15476286.2021.2021650 | therapy | 2022 | |
| Collagen VI-Related Dystrophies | https://www.ncbi.nlm.nih.gov/books/NBK1503/ | basic | ongoing | |
| Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD | 10.1016/j.omtn.2020.05.029 | therapy | 2020 | |
| Gapmer Antisense Oligonucleotides to Selectively Suppress the Mutant Allele in COL6A Genes in Dominant Ullrich Congenital Muscular Dystrophy | 10.1007/978-1-0716-0771-8_16 | therapy | 2020 | |
| Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts | 10.1038/mtna.2014.22 | therapy | 2014 | |
| Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency | 10.1093/hmg/7.6.981 | basic | 1998 | |
| Deep Learning Enables Discovery of a Short Nuclear Targeting Peptide for Efficient Delivery of Antisense Oligomers | [[1][10.1021/jacsau.1c00327]] | ML | 2021 | https://github.com/learningmatter-mit/peptimizer |
| Hepatotoxic Potential of Therapeutic Oligonucleotides Can Be Predicted from Their Sequence and Modification Pattern | [[2][10.1089/nat.2013.0436]] | ML | 2013 | |
| Chemical Diversity of Locked Nucleic Acid-Modified Antisense Oligonucleotides Allows Optimization of Pharmaceutical Properties | [[3][10.1016/j.omtn.2019.12.011]] | ML | 2019 | |
| Review of machine learning methods for RNA secondary structure prediction | [[4][10.1371/journal.pcbi.1009291]] | ML | 2021 | |
| A deep learning approach to identify gene targets of a therapeutic for human splicing disorders | [[5][10.1038/s41467-021-23663-2]] | ML | 2021 | |
| Efficient Delivery of Antisense Oligonucleotides Using Bioreducible Lipid Nanoparticles In Vitro and In Vivo | https://doi.org/10.1016/j.omtn.2020.01.018 | basic | 2020 | ASO delivery |
| Reprogramming the piRNA pathway for multiplexed and transgenerational gene silencing in C. elegans | 10.1038/s41592-021-01369-z | basic | 2022 | gene interference using piRNA |
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