Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

ABSTRACT: Novel Compound Heterozygous Variants in PCCB Gene Causing Adult-onset Propionic Acidemia Presenting with Neuropsychiatric Symptoms

PROVIDER: PRJNA802806 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR17860476_1.fastq.gz	Fastqsanger.gz
	SRR17860476_2.fastq.gz	Fastqsanger.gz

Items per page:

1 - 2 of 2

Similar Datasets

RNA-seq of human cell line HepG2 edited with CRISPR and treated with splice-switching oligo inhibiting a pseudoexon in PCCA against control SSO and control HepG2 cells

Project description:Cellular models of propionic acidemia were generated using HepG2 cells that were edited by CRISPR gene editing to introduce the pathogenic PCCA c.1285-1416A>G variant associated with propionic acidemia, and a 7 bp deletion of a predicted hnRNP A1 binding motif (c.1285-1411delTAGAACA), which causes complete and partial activation of an 84 bp pseudoexon from intron 14 in the PCCA gene, respectively. Treatment by transfection of splice-switching antisense oligonucleotides (SSO) to block inclusion of the PCCA pseudoexon in mRNA, was used to investigate this as a potential therapeutic strategy.

2023-12-10 | E-MTAB-13549 | biostudies-arrayexpress

9d49f17b-b618-46d4-91f0-8a4a37e0ae9e - samples

Project description:The dataset comprises of seven samples described below 1. Muscle samples from three patients with late-onset PEO caused by compound heterozygous POLG variants M0305 POLG W748S/R1096C M1105 POLG A467T/T251I+P587L M1804 POLG A467T/X1240G+35aa 2. Muscle sample from a patient with adPEO with heterozygous TWNK variants M0230 TWNK p.Arg357Pro 3. Blood control samples from two patients with late-onset PEO caused by compound heterozygous POLG variants DNA2012-1630_S1 POLG W748S/R1096C DNA2018-0168_S2 POLG A467T/T251I+P587L 4. Muscle samples from healthy control individuals DNA2018-0172_S4 Healthy control 2 DNA2018-0173_S5 Healthy control 1

| EGAD00001004271 | EGA

H4K16 acylations fine-tune transcriptional response during metabolic perturbations (ChIP-seq)

Project description:We studied the combined effects of the H4K16 acylations in vivo using a mouse model of the metabolic disorder propionic acidemia (PA), which causes metabolic challenges and systemic shifts in acyl-CoA ratios. Our findings indicate that H4K16 acylations modulate transcriptional responses in a concerted manner, providing insights into an adaptive chromatin regulation in response to metabolic stress.

2025-12-01 | GSE275933 | GEO

H4K16 acylations fine-tune transcriptional response during metabolic perturbations (RNA-seq)

Project description:We studied the concerted effects of the H4K16 acylations in vivo using a mouse model of the metabolic disorder propionic acidemia (PA), which causes metabolic challenges and systemic shifts in acyl-CoA ratios. Our findings indicate that H4K16 acylations act in vivo in a coordinated manner, allowing fine-tuning of transcriptional responses to metabolic stresses. Our work provides insights into the adaptive mechanisms of chromatin regulation in response to metabolic challenges.

2025-12-01 | GSE275934 | GEO

H4K16 acylations fine-tune transcriptional response during metabolic perturbations (ATAC-seq)

2025-12-01 | GSE275932 | GEO

Insights into the FOXE3 Transcriptional Network from Exploration of the Impact of a Regulatory Variant in Complex Microphthalmia

Project description:FOXE3 encodes a highly conserved transcription factor essential for lens development, which is critical for proper eye formation. Biallelic variants in FOXE3 are associated with ocular anomalies, particularly complex microphthalmia (CM), characterized by defects in both the anterior segment and lens. Using next-generation sequencing (NGS) and Sanger sequencing, we identified a heterozygous nonsense variant in compound heterozygosity with a novel single nucleotide variant (SNV) located in a conserved non-coding region 3 kb upstream of FOXE3 in a patient with CM. Genetically engineered mouse lines carrying either the non-coding variant (Foxe3rv) or a frameshift mutation (Foxe3-) in homozygosity (Foxe3rv/rv and Foxe3-/-), along with compound heterozygous (Foxe3rv/Foxe3-) animals, revealed significant differences in the prevalence of ocular anomalies between wild-type controls and mice with homozygous or compound heterozygous mutations, highlighting the detrimental impact of these genetic variants. Furthermore, the progressive decline in FOXE3 protein levels across genotypes underscores its essential role in normal lens development and overall eye structure. These findings illuminate the intricate relationship between genetic variants and their effects on protein functionality and phenotype. In addition, our analysis demonstrated that the non-coding variant impairs USF2 binding, while Usf2 knockdown underscored its essential role in downregulating Foxe3, positioning it as a promising candidate gene in ocular development. These insights emphasize the importance of identifying disease-causing non-coding variants to enhance diagnostic precision for ocular developmental defects and to enrich our understanding of the regulatory mechanisms that govern eye development genes. Finally, this work provides new elements to understand the general mechanisms of ocular growth which, when impaired, leads to microphthalmia.

2025-08-25 | PXD058162 | Pride

Mouse kidney glomeruli. Control vs. podocin(R231Q/A268V)

Project description:Similar to human patients, mice with the compound heterozygous mutation podocin R231Q/A268V, develop a late onset FSGS. Here, we did a proteomics anaylsis of kidney glomeruli before the onset of disease (mice at 3 weeks of age). Analysis of the data reveals that there are no developmental changes in the proteome of compund heterozygous mice.

2020-05-15 | PXD018326 | Pride

KIAA0753 human fibroblasts treated with control media, Smoothened Agonist (SAG) or WNT3A

Project description:Human fibroblasts from a control or a patient with compound heterozygous variants in KIAA0753 treated with SAG or WNT3A to test responses within canonical Hedgehog or WNT signaling.

2021-08-24 | GSE182286 | GEO

Homo sapiens

Project description:Novel Compound Heterozygous Variants in LTBP2 Associated with Relative Anterior Microphthalmia

| PRJNA846598 | ENA

A patient-based Drosophila model for mitochondrial S-Adenosylhomocysteine transport deficiency

Project description:The SLC25A26 gene encodes a mitochondrial inner membrane carrier that transports S-adenosylmethionine (SAM) into the mitochondrial matrix in exchange for S-adenosylhomocysteine (SAH). SAM is the predominant methyl-group donor for most cellular methylation processes, of which SAH is produced as a by-product. Pathogenic, bi-allelic SLC25A26 variants are a recognized cause of mitochondrial disease in children, with a severe neonatal-onset caused by decreased SAM transport activity. We describe two, unrelated adult cases presenting with exercise intolerance and mitochondrial myopathy associated with bi-allelic variants in SLC25A26 which lead to marked respiratory chain deficiencies and mitochondrial histopathological abnormalities in skeletal muscle that are comparable to the early-onset cases. We demonstrate using both mouse and fruit fly models that impairment of SAH, rather than SAM, transport across the mitochondrial membrane is the cause of this milder, later onset clinical phenotype. In this submission, the total larval proteome was assessed at two, three and four days after egg laying in mutants expressing a SAMC.R166Q mutation versus wDah genetic background controls. Our finding of a novel pathomechanism associated with a known disease-causing protein highlights the potential of precision medicine in clinical decision making.

2022-01-19 | PXD026900 | Pride

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data