Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Restored Collagen VI Microfilaments Network in the Extracellular Matrix of CRISPR-Edited Ullrich Congenital Muscular Dystrophy Fibroblasts.

Biomolecules - 6 Nov 2024

Benati Daniela, Cattin Eleonora, Corradi Federico, Ferrari Tommaso, Pedrazzoli Eleonora, Patrizi Clarissa, Marchionni Matteo, Bertorelli Roberto, De Sanctis Veronica, Merlini Luciano, Ferlini Alessandra, Sabatelli Patrizia, Gualandi Francesca, Recchia Alessandra

Abstract excerpt

Collagen VI is an essential component of the extracellular matrix (ECM) composed by α1, α2 and α3 chains and encoded by COL6A1, COL6A2 and COL6A3 genes. Dominant negative pathogenic variants in COL6A genes result in defects in collagen VI protein and are implicated in the pathogenesis of muscular diseases, including Ullrich congenital muscular dystrophy (UCMD). Here, we designed a CRISPR genome editing strategy...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Collagen Type VI
Share to CRISPR-Cas Systems

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Extracellular Matrix

Share to Fibroblasts

Share to Gene Editing

Share to Muscular Dystrophies

Share to Mutation

Share to Sclerosis

Source

Open in PubMed Open full text

Identifiers

PMID: 39595588
DOI: 10.3390/biom14111412
PMCID: PMC11591638

Genes

COL6A1
COL6A2
COL6A3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Restored Collagen VI Microfilaments Network in the Extracellular Matrix of CRISPR-Edited Ullrich Congenital Muscular Dystrophy Fibroblasts.PMID 39595588Read ↗

CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts.Semantic proximity Read ↗

The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy.Semantic proximity Read ↗

Collagen VI in the Musculoskeletal System.Semantic proximity Read ↗

Correction of muscular dystrophies by CRISPR gene editing.Semantic proximity Read ↗

Collagen type VI myopathies.Semantic proximity Read ↗

Col6a1 knock-in mice provide a promising pre-clinical model for collagen VI-related dystrophies.Semantic proximity Read ↗

Collagen VI disorders: Insights on form and function in the extracellular matrix and beyond.Semantic proximity Read ↗

Collagen VI Muscle Disorders: Mutation Types, Pathogenic Mechanisms and Approaches to Therapy.Semantic proximity Read ↗

Generation and Characterization of <i>Col6a1</i> knock-in mice: A Promising Pre-Clinical Model for Collagen VI-Related DystrophiesSemantic proximity Read ↗

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations.Semantic proximity Read ↗

CRISPRa-induced upregulation of human <i>LAMA1</i> compensates for <i>LAMA2</i> -deficiency in Merosin-deficient congenital muscular dystrophySemantic proximity Read ↗

The expanded collagen VI family: new chains and new questionsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.