Results 61 to 70 of about 57,370,564 (168)

A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8

Brain Pathology, EarlyView.
We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Ulrika Lindgren, Carola Hedberg‐Oldfors, Kittichate Visuttijai, Sara Nordström, Hans Goebel, Anders Oldfors   +5 more
wiley   +1 more source

Functional and structural consequences of TBK1 missense variants in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

Neurobiology of Disease, 2022
Mutations in the Tank-binding kinase 1 (TBK1) gene were identified in 2015 in individuals with frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). They account for ∼3–4% of cases.
Yuval Gurfinkel, Nicole Polain, Krushna Sonar, Penelope Nice, Ricardo L. Mancera, Sarah Lyn Rea   +5 more
doaj   +1 more source

Targeting KRAS for cancer therapy

British Journal of Pharmacology, EarlyView.
In recent years, therapeutics targeted against KRAS proto‐oncogene GTPase (KRAS)‐mutant cancers have seen significant progress. Herein we outline the biology and epidemiology of KRAS alterations at the lineage and allele levels, reviewing the clinical evidence for KRASG12C inhibition from the discovery of the recessive switch pocket to sotorasib ...
Jianlong Jia, Ruonan Liu, Tonia A. Adamide, Isis E. Fernandez, Georgios T. Stathopoulos   +4 more
wiley   +1 more source

Homozygous sequestosome 1 (SQSTM1) mutation: a rare cause for childhood-onset progressive cerebellar ataxia with vertical gaze palsy

, 2019
Mutations in sequestosome 1 (SQSTM1) gene are associated with neurodegenerative diseases, such as frontotemporal dementia and amyotrophic lateral sclerosis.
Ashraf Mannan (549960), Veena Vedartham (7387547), Sruthi S Nair (7387553), Soumya Sundaram (7387550), Aparna Ganapathy (507516), Ramshekhar Menon (7387556)   +5 more
core   +1 more source

Chemical mimetics of the N-degron pathway alleviate systemic inflammation by activating mitophagy and immunometabolic remodeling

Experimental and Molecular Medicine, 2023
Sepsis: chemical modulation of selective autophagy alleviates systemic inflammation Sepsis is a life-threatening condition that occurs when the body’s response to infection damages its own organs.
Prashanta Silwal, Young Jae Kim, Yoon Jee Lee, In Soo Kim, Sang Min Jeon, Taylor Roh, Jin Kyung Kim, Min Joung Lee, Jun Young Heo, Doo Sin Jo, Sang-Hee Lee, Dong-Hyung Cho, Jin Man Kim, Yong Tae Kwon, Eun-Kyeong Jo   +14 more
doaj   +1 more source

Biomarkers Correlating With the Development of Oral Squamous Cell Carcinoma From Leukoplakia

Oral Diseases, EarlyView.
ABSTRACT Background We assessed protein biomarkers expressed in oral leukoplakia (OL) that are associated with the risk of transformation into oral squamous cell carcinoma (OSCC). Methods Tissue sections of OL transforming into OSCC (leuko‐ca), the corresponding OSCC and OL that did not progress to OSCC (leuko‐nonca) were analyzed with global relative ...
Daniel Giglio, Divya Ganesh, Bishwa Prakash Bhattarai, Tine Merete Søland, Jonas Sundberg, Annika Thorsell, Jenny Öhman, Dipak Sapkota, Bengt Hasséus   +8 more
wiley   +1 more source

NIMA-related kinase 9–mediated phosphorylation of the microtubule-associated LC3B protein at Thr-50 suppresses selective autophagy of p62/sequestosome 1

Journal of Biological Chemistry, 2019
Human ATG8 family proteins (ATG8s) are active in all steps of the macroautophagy pathway, and their lipidation is essential for autophagosome formation.
B. K. Shrestha, Mads Skytte Rasmussen, Y. P. Abudu, J. Bruun, K. B. Larsen, E. A. Alemu, E. Sjøttem, T. Lamark, T. Johansen   +8 more
semanticscholar   +1 more source

One day of environment‐induced heat stress causes injury to the murine kidney

Experimental Physiology, EarlyView.
Abstract Environment‐induced heat stress (EIHS) results from sustained body temperature elevation owing to prolonged exposure to heat and humidity. We hypothesized that EIHS would cause kidney injury and cellular dysfunction. To test this hypothesis, female C57 mice were exposed to EIHS (n = 14; 37.6°C, 42.0% relative humidity) or thermoneutral (TN ...
Melissa Roths, Alyona Michael, Zachary J. Schlader, Joshua T. Selsby   +3 more
wiley   +1 more source

Tumorigenesis in tuberous sclerosis complex is autophagy and p62/sequestosome 1 (SQSTM1)-dependent

, 2011
Tuberous sclerosis complex (TSC) is a tumor suppressor syndrome characterized by benign tumors in multiple organs, including the brain and kidney.
David J. Kwiatkowski, Neil Auricchio, Jane J. Yu, Faina Myachina, Toren Finkel, Andrey Parkhitko, J. Julia Wu, Tasha A. Morrison, Khadijah M. Hindi, Magdalena Karbowniczek, Elizabeth Petri Henske   +10 more
core   +1 more source

α‐Synuclein Promotes Atherosclerosis by Impairing Macrophage Autophagic Flux

Aging Cell, Volume 25, Issue 10, October 2026.
Extracellular α‐synuclein activates the FLOT1‐PI3K‐mTOR axis to block autophagosome‐lysosomal fusion and lipophagy, thereby promoting macrophage foaming and atherosclerosis. Knockdown of FLOT1 or inhibition of PI3K‐mTOR rescues these effects. The graphical abstract image was created with Figdraw.
Mengting Qin, Xuying Xiang, Xiaoqing Guo, Shengnan Wang, Jiaojiao Chen, Dailiang Jiang, Yuhang Feng, Jiangnan Yu, Ling Mao   +8 more
wiley   +1 more source