Collagen IV of basement membranes: IV. Adaptive mechanism of collagen IV scaffold assembly in Drosophila

JA Summers, M Yarbrough, M Liu… - Journal of Biological …, 2023 - ASBMB
Collagen IV is an essential structural protein in all metazoans. It provides a scaffold for the
assembly of basement membranes, a specialized form of extracellular matrix, which anchors …

Lysyl hydroxylase 3–mediated post-translational modifications are required for proper biosynthesis of collagen α1α1α2 (IV)

Y Ishikawa, Y Taga, T Coste, SF Tufa, DR Keene… - Journal of Biological …, 2022 - ASBMB
Collagens are the most abundant proteins in the body and among the most biosynthetically
complex. A molecular ensemble of over 20 endoplasmic reticulum resident proteins …

Genetic reprogramming with stem cells regenerates glomerular epithelial podocytes in Alport syndrome

VS LeBleu, K Kanasaki, S Lovisa, JL Alge… - Life science …, 2024 - life-science-alliance.org
Glomerular filtration relies on the type IV collagen (ColIV) network of the glomerular
basement membrane, namely, in the triple helical molecules containing the α3, α4, and α5 …

Novel and founder pathogenic variants in X-linked Alport syndrome families in Greece

D Hadjipanagi, G Papagregoriou, C Koutsofti… - Genes, 2022 - mdpi.com
Alport syndrome (AS) is the most frequent monogenic inherited glomerulopathy and is also
genetically and clinically heterogeneous. It is caused by semi-dominant pathogenic variants …

A importância do diagnóstico precoce e das intervenções terapêuticas na Síndrome de Alport

GFS Santos, KO Costa, LB Lopes… - … Journal of Health …, 2024 - ojs.brazilianjournals.com.br
A Síndrome de Alport, uma doença genética rara, é causada por mutações nos genes
COL4A3, COL4A4 e COL4A5, afetando principalmente o colágeno tipo IV. Esta condição é …

[PDF][PDF] Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece. Genes 2022, 13, 2203

D Hadjipanagi, G Papagregoriou, C Koutsofti… - 2022 - academia.edu
Alport syndrome (AS) is the most frequent monogenic inherited glomerulopathy and is also
genetically and clinically heterogeneous. It is caused by semi-dominant pathogenic variants …

Síndrome de Alport: manejo terapêutico atualizado

HB Dias, VAM de Freitas Dutra, LNM Miki… - Journal of Medical …, 2024 - journalmbr.com.br
Resumo INTRODUÇÃO: A Síndrome de Alport (SA) é uma doença hereditária renal
causada por mutações nos genes COL4A3, COL4A4 e COL4A5. Clinicamente, a doença …