Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K/AKT/mTOR signaling pathway.

Gene - 30 May 2024

Fu Jiahui, Liang Peili, Zheng Yingchun, Xu Cailing, Xiong Fu, Yang Fang

Abstract excerpt

BACKGROUND/AIM: Tuberous sclerosis complex (TSC) is a multi-system syndrome caused by loss-of-function mutation in TSC1 or TSC2. Most TSC patients present with cardiac rhabdomyoma or cortical tubers during fetal life, and the symptoms are not uniform as their age. The gene products of TSC1/2 are components of the TSC protein complex and are important role in the PI3K/AKT/mTOR (PAM) signaling pathway. Based on...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Phosphatidylinositol 3-Kinases
Share to Proto-Oncogene Proteins c-akt

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Signal Transduction

Share to TOR Serine-Threonine Kinases

Share to Tuberous Sclerosis

Share to Tuberous Sclerosis Complex 1 Protein

Share to Tuberous Sclerosis Complex 2 Protein

Share to Tumor Suppressor Proteins

Source

Identifiers

PMID: 38412945
DOI: 10.1016/j.gene.2024.148312

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K/AKT/mTOR signaling pathway.PMID 38412945Read ↗

Tuberous sclerosis complex, implication from a rare genetic disease to common cancer treatmentSemantic proximity Read ↗

The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions.Semantic proximity Read ↗

The dual role of the TSC complex in cancer.Semantic proximity Read ↗

Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.Semantic proximity Read ↗

TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a reviewSemantic proximity Read ↗

Tuberous sclerosis complex.Semantic proximity Read ↗

Everolimus improves neuropsychiatric symptoms in a patient with tuberous sclerosis carrying a novel TSC2 mutation.Semantic proximity Read ↗

Tuberous Sclerosis ComplexSemantic proximity Read ↗

Genetics and Molecular Biology of Tuberous Sclerosis ComplexSemantic proximity Read ↗

TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling.Semantic proximity Read ↗

Dysregulation of the TSC-mTOR pathway in human diseaseSemantic proximity Read ↗

Role of TSC1 in physiology and diseasesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.