Autophagy: a multifaceted player in the fate of sperm

M Wang, L Zeng, P Su, L Ma, M Zhang… - Human Reproduction …, 2022 - academic.oup.com
BACKGROUND Autophagy is an intracellular catabolic process of degrading and recycling
proteins and organelles to modulate various physiological and pathological events …

Perfect match: mTOR inhibitors and tuberous sclerosis complex

C Luo, WR Ye, W Shi, P Yin, C Chen, YB He… - Orphanet journal of rare …, 2022 - Springer
Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome that presents with
diverse and complex clinical features and involves multiple human systems. TSC-related …

[HTML][HTML] Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations

H Northrup, ME Aronow, EM Bebin, J Bissler… - Pediatric Neurology, 2021 - Elsevier
Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease
affecting multiple body systems with wide variability in presentation. In 2013, Pediatric …

Evaluation of mutant huntingtin and neurofilament proteins as potential markers in Huntington's disease

LM Byrne, FB Rodrigues, EB Johnson… - Science translational …, 2018 - science.org
Huntington's disease (HD) is a genetic progressive neurodegenerative disorder, caused by
a mutation in the HTT gene, for which there is currently no cure. The identification of …

COX7A1 enhances the sensitivity of human NSCLC cells to cystine deprivation-induced ferroptosis via regulating mitochondrial metabolism

Y Feng, J Xu, M Shi, R Liu, L Zhao, X Chen, M Li… - Cell death & …, 2022 - nature.com
COX7A1, a subunit of cytochrome c oxidase, holds an important position in the super-
assembly which integrates into multi-unit heteromeric complexes peripherally in the …

Acne in the first three decades of life: An update of a disorder with profound implications for all decades of life

DE Greydanus, R Azmeh, MD Cabral, CA Dickson… - Disease-a-Month, 2021 - Elsevier
Acne vulgaris is a chronic, inflammatory, skin condition that involves the pilosebaceous
follicles and is influenced by a variety of factors including genetics, androgen-stimulation of …

What's new in photoprotection: a review of new concepts and controversies

DG Yeager, HW Lim - Dermatologic clinics, 2019 - derm.theclinics.com
Cumulative UV radiation (UVR) exposure plays a critical role in photoaging,
immunosuppression, photocarcinogenesis and the exacerbation of photodermatoses. UV-A …

PI3K/mTOR pathway inhibition: opportunities in oncology and rare genetic diseases

P Hillmann, D Fabbro - International journal of molecular sciences, 2019 - mdpi.com
The phosphatidylinositol 3-kinase (PI3K)/mammalian target of rapamycin (mTOR) signaling
pathway has been implicated as a cancer target. Big pharma players and small companies …

Efficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysis

M Li, Y Zhou, C Chen, T Yang, S Zhou, S Chen… - Orphanet Journal of …, 2019 - Springer
Background The treatment of tuberous sclerosis complex (TSC) using mammalian target of
rapamycin (mTOR) inhibitors is clinically promising. The aim of the present study was to …

TFEB drives mTORC1 hyperactivation and kidney disease in Tuberous Sclerosis Complex

N Alesi, D Khabibullin, DM Rosenthal, EW Akl… - Nature …, 2024 - nature.com
Abstract Tuberous Sclerosis Complex (TSC) is caused by TSC1 or TSC2 mutations, leading
to hyperactivation of mechanistic target of rapamycin complex 1 (mTORC1) and lesions in …