Spectrum of germline and somatic mitochondrial DNA variants in Tuberous Sclerosis Complex
Tuberous Sclerosis Complex (TSC) is caused by loss of function variants in either TSC1 or TSC2 and is characterized by broad phenotypic heterogeneity. Currently, there is limited knowledge regarding the role of the mitochondrial genome (mtDNA) in TSC pathogenesis. In this study, we aimed to determin...
Main Authors: | Krinio Giannikou, Katie R. Martin, Ahmad G. Abdel-Azim, Kaila J. Pamir, Thomas R. Hougard, Shefali Bagwe, Yan Tang, Jeffrey P. MacKeigan, David J. Kwiatkowski, Elizabeth P. Henske, Hilaire C. Lam |
---|---|
Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2023-01-01
|
Series: | Frontiers in Genetics |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.917993/full |
Similar Items
-
Lymphangioleiomyomatosis in patients with tuberous sclerosis: a national centre audit
by: Jan Johnson, et al.
Published: (2024-03-01) -
Feasibility and Long-Term Efficacy of PEComa Treatment—20 Years of Experience
by: Aleksandra Sobiborowicz, et al.
Published: (2021-05-01) -
PEBP4 Directs the Malignant Behavior of Hepatocellular Carcinoma Cells via Regulating mTORC1 and mTORC2
by: Qiongfeng Chen, et al.
Published: (2022-08-01) -
Tissue‐Engineered Disease Modeling of Lymphangioleiomyomatosis Exposes a Therapeutic Vulnerability to HDAC Inhibition
by: Adam Pietrobon, et al.
Published: (2023-09-01) -
mTOR Cross-Talk in Cancer and Potential for Combination Therapy
by: Fabiana Conciatori, et al.
Published: (2018-01-01)