ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction.

Wolfe, Rachel; Heiman, Paige; D'Annibale, Olivia; Karunanidhi, Anuradha; Powers, Alyssa; Mcguire, Marianne; Seminotti, Bianca; Dobrowolski, Steven F; Reyes-Múgica, Miguel; Torok, Kathryn S; Mohsen, Al-Walid; Vockley, Jerry; Ghaloul-Gonzalez, Lina

Wolfe, Rachel; Heiman, Paige; D'Annibale, Olivia; Karunanidhi, Anuradha; Powers, Alyssa; Mcguire, Marianne; Seminotti, Bianca; Dobrowolski, Steven F; Reyes-Múgica, Miguel; Torok, Kathryn S; Mohsen, Al-Walid; Vockley, Jerry; Ghaloul-Gonzalez, Lina.

Affiliation

Wolfe R; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Heiman P; University of Pittsburgh, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
D'Annibale O; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Karunanidhi A; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Powers A; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
Mcguire M; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Seminotti B; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Dobrowolski SF; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
Reyes-Múgica M; UPMC Clinical Genomics Laboratory, UPMC Magee-Womens Hospital, Pittsburgh, PA, USA.
Torok KS; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Mohsen AW; Division of Clinical Chemistry, Department of Pathology, University of Pittsburgh, Pittsburgh, PA, USA.
Vockley J; Division of Clinical Chemistry, Department of Pathology, University of Pittsburgh, Pittsburgh, PA, USA.
Ghaloul-Gonzalez L; Division of Rheumatology, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.

Mol Genet Metab Rep ; 33: 100932, 2022 Dec.

Article in En | MEDLINE | ID: mdl-36338154

Key words

Apoptosis; Autoimmune disease; DMEM, Dulbecco's Modified Eagle Medium; E3 ligase; ETC, Mitochondrial electron transport chain; FAO, Fatty acid oxidation; FOXP3, Forkhead box P3 protein; HECT, Homologous to the E6-Associated Protein C-Terminus; IBD, Inflammatory Bowel Disease; IF, Immunofluorescence analysis; ITCH; MAVS, Mitochondrial antiviral signaling protein; Mitochondrial dysfunction; NOTCH1, Notch receptor 1 protein; OCR, Oxygen consumption rate; OXPHOS, Oxidative Phosphorylation; TAX1BP1, TAX1-binding protein 1; TFP, Trifunctional protein; TXNIP, Thioredoxin Interacting Protein; Tregs, T regulatory cells; UPS, Ubiquitin proteasome system; Ubiquitination; VLCAD, Very long-chain acyl-CoA dehydrogenase protein

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Mol Genet Metab Rep Year: 2022 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google