Results 101 to 110 of about 120,158 (339)

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation

Molecular Genetics and Metabolism Reports, 2016
The Congenital Disorders of Glycosylation (CDG) are an expanding group of genetic disorders which encompass a spectrum of glycosylation defects of protein and lipids, including N- & O-linked defects and among the latter are the muscular ...
Wendy E. Heywood, Emily Bliss, Philippa Mills, Jale Yuzugulen, Gabriela Carreno, Peter T. Clayton, Francesco Muntoni, Viki C. Worthington, Silvia Torelli, Neil J. Sebire, Kevin Mills, Stephanie Grunewald   +11 more
doaj   +1 more source

ATF5‐Dependent GDF15 Expression Mediates Anesthesia‐Induced Neuroprotection Against Stroke

Advanced Science, EarlyView.
Anesthesia‐induced preconditioning protects against perioperative stroke. By manipulating ATF5 in excitatory neurons, it is shown that anesthesia‐driven ATF5 upregulation activates the mitochondrial unfolded protein response (UPRmt) and elevates GDF15 expression.
Xianshu Ju, Tao Zhang, Jianchen Cui, Yulim Lee, Suho Lee, Ho Min Kim, Boohwi Hong, Jiho Park, Chul Hee Choi, Hyon‐Seung Yi, Jun Young Heo, Woosuk Chung   +11 more
wiley   +1 more source

Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA

Scientific Reports
Lysosomal storage diseases (LSDs) are a group of monogenic diseases characterized by mutations in genes coding for proteins associated with the lysosomal function.
Viviana Vargas-López, Luisa F. Prada, Carlos J. Alméciga-Díaz   +2 more
doaj   +1 more source

Amino Acids and Acylcarnitines Reference Values for Neonatal Screening of Inborn Errors of Metabolism in Colombia by Tandem Mass Spectrometry [PDF]

, 2021
Antonio Bermúdez, Dora Robayo, Gloria L. Porras, Marı́a Amparo Acosta   +3 more
openalex   +1 more source

Metformin Restores Mitochondrial Function and Neurogenesis in POLG Patient‐Derived Brain Organoids

Advanced Science, EarlyView.
Patient‐derived POLG‐mutant cortical organoids reveal neuronal subtype‐specific mitochondrial and synaptic defects, with dopaminergic neurons most affected. Metformin treatment restores neuronal identity, mitochondrial function, and excitability, increased mtDNA maintenance, and reprogrammed metabolism via TCA and redox pathways.
Zhuoyuan Zhang, Tsering Yangzom, Ning Lu, Shenglong Deng, Xianglu Xiao, Guang Yang, Kristina Xiao Liang   +6 more
wiley   +1 more source

Mettl3‐Mediated m6A Modification Represents a Novel Therapeutic Target for FSGS

Advanced Science, EarlyView.
This study explores the roles of Mettl3‐induced N6‐methyladenosine (m6A) modifications in Focal segmental glomerulosclerosis (FSGS). The findings reveal that inhibition of Mettl3 results in podocyte injury by modulating the TJP1CDC42 pathway. Moreover, Administration of N6‐methyladenosine attenuates the FSGS phenotype in WT mice induced by Adriamycin ...
Fubin Zhu, Hongzhi Li, Xiang Li, Chunxiu Du, Ting Wang, Xuling Zhou, Xiaobei Xie, Yunxia Shao, Yingzhi Huang, Yanling Hu, Xinxin Guo, Bin Zhu, Shanshan Yu, Xiaoyan Zhang, Binghai Zhao   +14 more
wiley   +1 more source

Hyperandrogenemia Induces Trophoblast Ferroptosis and Early Pregnancy Loss in Patients With PCOS via CMA‐Dependent FTH1 Degradation

Advanced Science, EarlyView.
In PCOS patients with hyperandrogenemia, decreased ferritin heavy chain 1 (FTH1) causes Fe2⁺ overload and ferroptosis in trophoblasts. Androgens induce FTH1 protein degradation via AR‐LAMP2A‐mediated chaperone‐mediated autophagy pathway, leading to placental development disruption and early pregnancy loss. Metformin mitigates androgen‐induced placental
Hanjing Zhou, Weijie Yang, Na Liu, Qing Liu, Jiamin Jin, Chenqiong Zhao, Xiaoying Jin, Miao Gui, Haiyan Zhu, Songying Zhang, Yinli Zhang   +10 more
wiley   +1 more source

Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum

Case Reports in Pediatrics, 2018
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality.
Marco Antonio Curiati, Sandra Obikawa Kyosen, Vanessa Gonçalves Pereira, Francy Reis da Silva Patrício, Ana Maria Martins   +4 more
doaj   +1 more source

USP9X as a Candidate Mediator of Prenatal Aspirin‐Induced Ovarian Reserve Reduction in Offspring Mice

Advanced Science, EarlyView.
This study suggests that prenatal aspirin exposure is associated with reduced ovarian reserve in offspring, associated with HDAC1‐linked epigenetic downregulation of Usp9x as a candidate mechanism. These preclinical findings provide new insights into fetal‐origin ovarian disorders and contribute to the evidence base concerning aspirin's gestational ...
Yating Li, Caiyun Ge, Wai Yen Yim, Hui Feng, Tiancheng Wu, Lu Chen, Qiaohua Xiong, Shumin Pan, Mei Wang, Huijun Chen, Yuanzhen Zhang, Hui Wang   +11 more
wiley   +1 more source

THE YIELD OF A UNIFIED SCREEN FOR THE INVESTIGATION OF INBORN ERRORS OF METABOLISM IN CHILDREN WITH NEURODEVELOPMENTAL CONDITIONS – A RETROSPECTIVE CHART REVIEW [PDF]

, 2018
Norah Nahhas, Iskra Peltekova, Daniela Buhaş   +2 more
openalex   +1 more source