Christelle Arrondel
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View article: Therapeutic splice modulation of COL4A5 reinstates collagen IV assembly in an organoid model of X-linked Alport syndrome
Therapeutic splice modulation of COL4A5 reinstates collagen IV assembly in an organoid model of X-linked Alport syndrome Open
Kidney organoids are an emerging tool for disease modeling, especially genetic diseases. Among them, X-linked Alport syndrome (XLAS) is a hematuric nephropathy affecting the glomerular basement membrane (GBM) secondary to pathogenic variat…
View article: P135: X-linked Alport syndrome: From transcriptomic diagnosis to preclinical assessment of splice-switching oligonucleotide therapy using patient-derived cells and kidney organoids*
P135: X-linked Alport syndrome: From transcriptomic diagnosis to preclinical assessment of splice-switching oligonucleotide therapy using patient-derived cells and kidney organoids* Open
Alport syndrome (AS) is the most common hereditary glomerulopathy caused by pathogenic variants in the COL4A3, COL4A4, and COL4A5 genes encoding different chains of the collagen IV protein (α3, α4, and α5, respectively). COL4A3 to 5 intera…
View article: Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing
Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing Open
Whole‐genome sequencing (WGS) now allows identification of multiple variants in non‐coding regions. The large number of variants identified by WGS however complicates their interpretation. Through identification of the first deep intronic …
View article: Disruption of pathways regulated by Integrator complex in Galloway–Mowat syndrome due to WDR73 mutations
Disruption of pathways regulated by Integrator complex in Galloway–Mowat syndrome due to WDR73 mutations Open
View article: Pseudouridylation defect due to <i>DKC1</i> and <i>NOP10</i> mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis
Pseudouridylation defect due to <i>DKC1</i> and <i>NOP10</i> mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis Open
RNA modifications play a fundamental role in cellular function. Pseudouridylation, the most abundant RNA modification, is catalyzed by the H/ACA small ribonucleoprotein (snoRNP) complex that shares four core proteins, dyskerin (DKC1), NOP1…
View article: Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome Open
N 6 -threonyl-carbamoylation of adenosine 37 of ANN-type tRNAs (t 6 A) is a universal modification essential for translational accuracy and efficiency. The t 6 A pathway uses two sequentially acting enzymes, YRDC and OSGEP, the latter bein…
View article: Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies
Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies Open
[This corrects the article DOI: 10.1371/journal.pgen.1007386.].
View article: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies Open
Recent evidence suggests that the presence of more than one pathogenic mutation in a single patient is more common than previously anticipated. One of the challenges hereby is to dissect the contribution of each gene mutation, for which an…
View article: Podocin Oligomerization Revealed by FRET Analysis: Sites of Interallelic Interactions
Podocin Oligomerization Revealed by FRET Analysis: Sites of Interallelic Interactions Open
View article: Endoplasmic reticulum–retained podocin mutants are massively degraded by the proteasome
Endoplasmic reticulum–retained podocin mutants are massively degraded by the proteasome Open
Podocin is a key component of the slit diaphragm in the glomerular filtration barrier, and mutations in the podocin-encoding gene NPHS2 are a common cause of hereditary steroid-resistant nephrotic syndrome. A mutant allele encoding …
View article: Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice Open
View article: Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency Open
Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases. A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of individuals with SRNS whose symptoms manifest before 25 years of age…
View article: MP031THE MUTATION-DEPENDENT PATHOGENICITY OF THE NPHS2 R229Q VARIANT
MP031THE MUTATION-DEPENDENT PATHOGENICITY OF THE NPHS2 R229Q VARIANT Open