Results 181 to 190 of about 160,746 (308)

A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes. [PDF]

Mol Genet Metab Rep, 2021
Hershkovitz T, Kurolap A, Tal G, Paperna T, Mory A, Staples J, Brigatti KW, Regeneron Genetics Center, Gonzaga-Jauregui C, Dumin E, Saada A, Mandel H, Baris Feldman H.   +12 more
europepmc   +1 more source

Hypogonadism in mitochondrial disorders [PDF]

The Journal of Pediatrics, 2017
Josef, Finsterer, Sinda, Zarrouk-Mahjoub
openaire   +2 more sources

G3BP1 Succinylation at K413 is Critical for Cardiac Function by Modulating PI3K‐AKT‐mTOR Signal Axis

Advanced Science, EarlyView.
Schematic illustrating the impact of G3BP1 succinylation at K413 on cardiac function. In the healthy human heart, G3BP1 succinylation maintains homeostatic mTOR signaling. In patients with dilated cardiomyopathy (DCM) and heart failure (HF), G3BP1 de‐succinylation induces RagA expression and disrupts the binding of the TSC1/2 complex, leading to the ...
Yuan Zhang, Cancan Yao, Yan Chen, Ke Cai, Zhouping Lu, Boxuan Wu, Kun Yu, Yan Shi, Jianyuan Zhao, Xiangyu Zhou   +9 more
wiley   +1 more source

Mitochondrial Disorder in a Child With Brainstem Lesions Mimicking Thiamine Deficiency. [PDF]

Cureus
Asfour MA, Nedimyer Horner J, Gupta K, Silva G, Chandra T, Rossi G.   +5 more
europepmc   +1 more source

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

Advanced Science, EarlyView.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska, Kristina Bartmann, Georgea Raad, Mats Schade, Luiz Ladeira, Arif Dönmez, Jördis Klose, Nicolai Görts, Denis Polozij, Lynn‐Christin Saborowski, Farina Bendt, Bernard Staumont, Liesbet Geris, Katharina Koch, Ellen Fritsche   +14 more
wiley   +1 more source

Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy. [PDF]

Brain
Armirola-Ricaurte C, Morant L, Adant I, Hamed SA, Pipis M, Efthymiou S, Amor-Barris S, Atkinson D, Van de Vondel L, Tomic A, Seneca S, de Vriendt E, Zuchner S, Ghesquiere B, Hanna MG, Houlden H, Lunn MP, Reilly MM, Milic Rasic V, Jordanova A.   +19 more
europepmc   +1 more source

Tumor‐Derived LAMB3 Drives Immunosuppressive LRRC15+ Fibroblast Formation During Pancreatic Ductal Adenocarcinoma Development

Advanced Science, EarlyView.
A single‐cell atlas of pancreatic ductal adenocarcinoma development reveals progressive ductal‐fibroblast‐immune crosstalk. Tumor‐derived LAMB3 drives the formation of immunosuppressive LRRC15+ fibroblasts through the ITGB1/FAK/MAPK/FOSL2 signaling. Glycolytic reprogramming upregulates LAMB3 and correlates with LRRC15+ fibroblast enrichment.
Xuqing Shi, Hangqi Liu, Jianru Sun, Xiaoding Liu, Xinping Jv, Longyun Chen, Yuhan Zhang, Hui Zhang, Xudong Xing, Ruiyu Li, Xinyi Ke, Jun Wang, Xianglin Yin, Bohan Liu, Qixian Liu, Yuan Wang, Junliang Lu, Shiyi Liu, Junyi Pang, Yumeng Cai, Menghua Dai, Fan Bai, Huanwen Wu, Zhiyong Liang   +23 more
wiley   +1 more source

Mitochondrial Diabetes May Not Be the Only Phenotypic Presentation of the m.5826A>G mtDNA Variant [Letter]

Pharmacogenomics and Personalized Medicine
Josef Finsterer Neurology & Neurophysiology Center, Vienna, AustriaCorrespondence: Josef Finsterer, Neurological Department, Neurology and Neurophysiology Center, Postfach 20, Vienna, 1180, Austria, Tel/Fax +43-1-5861075, Email fifigs1@yahoo ...
Finsterer J
doaj  

Ischemic Stroke After Cochlear Implantation in a Patient With an Undiagnosed Mitochondrial Disorder. [PDF]

Cureus
Kullar P, Park KW, Kaufman A, Santa Maria PL.   +3 more
europepmc   +1 more source

Androgen Receptor‐Induced Lactoferrin Accelerates Prostate Tumorigenesis Through Modulating Ferroptosis

Advanced Science, EarlyView.
This study demonstrates that transcription factor androgen receptor (AR) directly binds the LF promoter, driving lactoferrin overexpression to promote ferritin (FTH1/FTL) upregulation and inhibit p53‐ALOX12‐mediated ferroptosis in prostate cancer. Lactoferrin could be a new potential therapeutic target in prostate cancer.
Can Liu, Qiu Peng, Xiaoyue Zhang, Zhengshuo Li, Yangge Wu, Yuqing Wen, Run Zheng, Shuanglong Wu, Chenfei Zhou, Zhengyu Hu, Lanjun Shu, Xinyi Ma, Qiuyang Li, Ya Ma, Chunlin Ou, Ming Zhao, Songqing Fan, Lingyu Wei, Jian Ma   +18 more
wiley   +1 more source