Results 141 to 150 of about 5,550,027 (295)

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

GS‐9620 alleviates psoriasis‐like inflammation by regulating autophagy in keratinocytes

Animal Models and Experimental Medicine, EarlyView.
Psoriasis is an immune‐mediated inflammatory disease of the skin characterized by excessive proliferation and abnormal differentiation of keratinocytes. GS‐9620 can increase the expression of ATG5, ATG7 and ATG16L1, thereby regulating the autophagy of keratinocytes and inhibiting the secretion of related inflammatory factors.
Yansi Lyu, Wei Zhou, Pei Zhang, Chen Lin, Xin Wen, Zigang Zhao, Guoqiang Zhang, Qian Zhang, Si Chen   +8 more
wiley   +1 more source

Recent Advances in Virus–Host Interactions, Antiviral Bioactive Compounds, and Breeding for Disease Resistance of Porcine Epidemic Diarrhea Virus

Animal Research and One Health, EarlyView.
Basic research on the PEDV infection cycle and virus–host interactions advances the development of anti‐PEDV drugs and disease‐resistant breeding and helps strengthen disease prevention and control while reducing economic losses in the swine industry.
Heyong Wu, Aosi Qi, Shuyu Zhong, Haozhen Du, Shimeng Guo, Hongsheng Ouyang, Hongming Yuan, Daxin Pang, Zicong Xie   +8 more
wiley   +1 more source

Dihydrotanshinone I Induces Autophagic Cell Death in Ovarian Cancer by Disrupting the SORT1-Mediated Autophagy–Lysosome Pathway

Engineering
Ovarian cancer (OC), a common malignancy of the female reproductive system, has the highest mortality rate among gynecological cancers. A distinguishing feature of OC cells (OCCs) is their reduced autophagic flux compared with normal cells.
Chengtao Sun, Shengqian Deng, Bing Han, Xiaoxiao Han, Yanan Yu, Man Li, Jiayi Lou, Chengping Wen, Jiong Wu, Guoyin Kai   +9 more
doaj   +1 more source

Cold atmospheric plasma‐mediated tumor microenvironment remodeling for cancer treatment

BMEMat, EarlyView.
Schematic presentation of CAP‐mediated TME remodeling. This review summarizes recent efforts in cold atmospheric plasma (CAP) application in cancer treatment, highlighting the anticancer potential of CAP, molecular mechanisms, and future perspectives for further improvement and clinical translation.
Israr Khan, Qiujie Fang, Cao Fei, Ziyuan Wang, Zhaowei Chen, Guojun Chen, Zhiming Xu, Shu Xu, Zhitong Chen   +8 more
wiley   +1 more source

AP-4 mediates export of ATG9A from the trans -Golgi network to promote autophagosome formation [PDF]

, 2017
Rafael Mattera, Sang Yoon Park, Raffaella De Pace, Carlos M. Guardia, Juan S. Bonifacino   +4 more
openalex   +1 more source

Biomaterial design strategies for enhancing mitochondrial transplantation therapy

BMEMat, EarlyView.
Biomaterials to facilitate mitochondrial transplantation therapy: biomaterials as barriers to protect mitochondria from pathophysiological microenvironments, like osmotic stress caused by the excessive concentration of calcium ion, reactive oxygen species, and advanced glycation end products; biomaterials integrating with biochemical cues to improve ...
Shaoyang Kang, Yushan Zhang, Hang Li, Sirui Peng, Donghao Lyu, Chunxiao Zhou, Sheng Ding, Zujian Feng, Pingsheng Huang, Chuangnian Zhang, Hongjun Wang, Deling Kong, Weiwei Wang   +12 more
wiley   +1 more source

Omegasomes control formation, expansion, and closure of autophagosomes

BioEssays
AbstractAutophagy, an essential cellular process for maintaining cellular homeostasis and eliminating harmful cytoplasmic objects, involves the de novo formation of double‐membraned autophagosomes that engulf and degrade cellular debris, protein aggregates, damaged organelles, and pathogens.
Viola Nähse, Harald Stenmark, Kay O. Schink   +2 more
openaire   +2 more sources

Abemaciclib and Vacuolin-1 decrease aggregate-prone TDP-43 accumulation by accelerating autophagic flux

Biochemistry and Biophysics Reports
(Macro)autophagy is a cellular degradation system for unnecessary materials, such as aggregate-prone TDP-43, a central molecule in neurodegenerative diseases including amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Abemaciclib (Abe)
Yoshinori Tanaka, Lina Kozuma, Hirotsugu Hino, Kosuke Takeya, Masumi Eto   +4 more
doaj   +1 more source

Autophagosome formation and cargo sequestration in the absence of LC3/GABARAPs [PDF]

, 2017
Benjamin Scott Padman, Thanh Ngoc Nguyen, Michael Lazarou   +2 more
openalex   +1 more source