Results 121 to 130 of about 56,286 (316)

Setup and Validation of a Targeted Next-Generation Sequencing Approach for the Diagnosis of Lysosomal Storage Disorders [PDF]

, 2020
Alessandra Zanetti, Francesca D’Avanzo, Loris Bertoldi, Guido Zampieri, Erika Feltrin, Fabio De Pascale, Angelica Rampazzo, Monica Forzan, Giorgio Valle, Rosella Tomanin   +9 more
openalex   +1 more source

Stimuli‐Responsive Supramolecular Biomaterials for Cancer Theranostics

Advanced Science, EarlyView.
The ultimate goal of cancer theranostics is to get imaging agents and therapeutic cargo to tumor sites when and where they are required. “Smart” systems should be developed. This review discusses the characteristics of physiological stimuli, types and action modes of external stimuli, construction approaches and working principles, as well as ...
Wenting Hu, Binglin Ye, Guocan Yu, Feihe Huang, Zhengwei Mao   +4 more
wiley   +1 more source

Epigenetic Mechanisms in Fabry Disease: A Thematic Analysis Linking Differential Methylation Profiles and Genetic Modifiers to Disease Phenotype

Current Issues in Molecular Biology
Background/Objectives: Fabry disease is an X-linked lysosomal storage disorder. It is characterised by impaired metabolism of glycosphingolipids whose accumulation causes irreversible organ damage and life-threatening complications.
Jatinder Singh, Paramala Santosh, Uma Ramaswami   +2 more
doaj   +1 more source

Lysosomal storage disorders: Present and future [PDF]

Indian Pediatrics, 2015
ysosomal storage disorders (LSDs) is a group of more than 50 single gene disorders caused by deficiencies of any of the glycoprotein acid hydrolase enzymes. Lysosomes are intracellular organelles serving important functions of breakdown of large molecules and helping in their disposal.
openaire   +2 more sources

Acetylation Regulates ACSL4 Degradation Through Chaperone‐Mediated Autophagy to Alleviate Intervertebral Disc Degeneration

Advanced Science, EarlyView.
Intervertebral disc degeneration is triggered by ACSL4 accumulation‐mediated ferroptosis of nucleus pulposus cells due to CMA dysfunction. KAT2B promotes ACSL4 degradation via CMA through acetylation. AAV‐mediated LAMP2A delivery or engineered exosomes rescue nucleus pulposus cell senescence and disc degeneration.
Zhouwei Wu, Zhichen Jiang, Chenglong Hong, Shu Yang, Shuqing Jin, Chenyu Wu, Kaijie Guo, Jiang Liu, Shaobo Xu, Chenggui Wang, Xiangyang Wang   +10 more
wiley   +1 more source

Neuroprotective Effects of Time‐Restricted Feeding Combined With Different Protein Sources in MPTP‐Induced Parkinson's Disease Mice Model and Its Modulatory Impact on Gut Microbiota Metabolism

Advanced Science, EarlyView.
Time‐restricted feeding (TRF) exerts protein‐dependent neuroprotective effects in an MPTP‐induced Parkinson's disease model. In casein‐fed mice, TRF improves gut barrier integrity and reduces neuroinflammation, possibly via modulation of Allobaculum and BCAAs.
Ting Li, Jian Wu, Sheng‐Yang Zhou, Ming‐An Li, Li‐Ping Zhao, Ao Wang, Yi‐Zhi Song, Wen‐Yan Huang, Lu‐Lu Tan, Chen‐Meng Qiao, Wei‐Jiang Zhao, Chun Cui, Yan‐Qin Shen   +12 more
wiley   +1 more source

MAN2B1 in immune system-related diseases, neurodegenerative disorders and cancers: functions beyond α-mannosidosis

Expert Reviews in Molecular Medicine
Glycosylation modifications of proteins and glycan hydrolysis are critical for protein function in biological processes. Aberrations in glycosylation enzymes are linked to lysosomal storage disorders (LSDs), immune interactions, congenital disorders and ...
Yuwen Han, Yuanshuai Zhou, Jinlin Pan, Minxuan Sun, Jiao Yang   +4 more
doaj   +1 more source

Misrouting of v-ATPase subunit V0a1 dysregulates lysosomal acidification in a neurodegenerative lysosomal storage disease model

Nature Communications, 2017
Lysosomal acidification defects have been implicated in various neurodegenerative disorders. Baghet al. show that the V0a1 subunit of v-ATPase requires palmitoylation for correct sorting and trafficking to the lysosome membrane, and that such a process ...
Maria B. Bagh, Shiyong Peng, Goutam Chandra, Zhongjian Zhang, Satya P. Singh, Nagarajan Pattabiraman, Aiyi Liu, Anil B. Mukherjee   +7 more
doaj   +1 more source

Arylsulfatase A deficiency causes seminolipid accumulation and a lysosomal storage disorder in Sertoli cells [PDF]

, 2011
Hongbin Xu, Kessiri Kongmanas, Suraj Kadunganattil, Charles E. Smith, Tony Rupar, Naoko Goto‐Inoue, Louis Hermo, Kym F. Faull, Nongnuj Tanphaichitr   +8 more
openalex   +1 more source

USP35 Acts as a Deubiquitinating Enzyme for ID3 to Promote Immune Escape in Colorectal Cancer

Advanced Science, EarlyView.
USP35 stabilizes ID3 expression by deubiquitinating the K2/K30 site, thereby upregulating PD‐L1 and promoting immune escape in colorectal cancer. IU1, an inhibitor of USP35 enzyme activity, has been shown to inhibit USP35, thereby accelerating ID3 degradation, enhancing CD8+ T cell killing, and reversing the immunosuppressive microenvironment ...
Wenxin Chen, Ling Wang, Hongmei Fan, Lisheng Li, Lingyu Zhang, Ruoxin Li, Fang Liu, Fuli Wen, Yunbin Ye, Chuanzhong Huang   +9 more
wiley   +1 more source