Results 191 to 200 of about 10,033,806 (381)

Proximity extension assay reveals serum inflammatory biomarkers in two amyotrophic lateral sclerosis cohorts

Neurobiology of Disease
Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease with both clinical and hereditary heterogeneity. Inflammation has been suggested to play an important role in ALS pathophysiology.
Yujing Chen, Sujuan Sun, Ninglu Gao, Zetai Bai, Wenfei Yu, Bing Zhao, Yan Yun, Xiaohan Sun, Pengfei Lin, Wei Li, Yuying Zhao, Chuanzhu Yan, Shuangwu Liu   +12 more
doaj  

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee, Olivia Kim‐Mcmanus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Yuji Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stephanie Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Liana Friedman, Naomi Meave Ojeda, Joseph G. Gleeson   +19 more
wiley   +1 more source

Report on the 2nd international molecular biosciences PhD and postdoc conference 2023: The emerging challenge – environmental impacts on human health

FEBS Open Bio
The 2nd International FEBS‐IUBMB‐ENABLE Molecular Biosciences PhD and Postdoc Conference was held from 23rd to 25th November 2023 in Cologne, Germany. Over 240 participants from 31 different countries came together at the University of Cologne to follow ...
Franziska Baumann, Andrea Mariani
doaj   +1 more source

Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism.

, 1993
Laurence A. Bindoff, Neil Howell, Joanna Poulton, D A McCullough, Karl Morten, R.N. Lightowlers, Douglass M. Turnbull, K. Weber   +7 more
openalex   +1 more source

CNS Mitochondria‐Derived Vesicle in Blood: Potential Biomarkers for Brain Mitochondria Dysfunction

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial dysfunction is a hallmark of neurodegenerative diseases like Alzheimer's (AD) and Parkinson's (PD). Our goal was to develop practical, noninvasive methods to assess mitochondrial status through the detection of mitochondria‐derived vesicles (MDVs).
Qi Liu, Wentao Chen, Yahong Wu, Zhen Guo, Jun Chen, Chen Tian, Pan Wang, Shaopeng Zeng, Bin Xu, Jing Duan, Shilong Han, Xiao Xiong, Jing Zhang   +12 more
wiley   +1 more source

Mitochondrial Abnormalities in Alzheimer's Disease [PDF]

, 2001
Keisuke Hirai, Gjumrakch Aliev, Akihiko Nunomura, Hisashi Fujioka, Robert L. Russell, Craig Atwood, Toby Johnson, Yvonne Kress, Harry V. Vinters, Massimo Tabaton, Shun Shimohama, Ayla Cash, Sandra L. Siedlak, Peggy L.R. Harris, Paul K. Jones, Robert B. Petersen, George Perry, Mark A. Smith   +17 more
openalex   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

Age-related metabolic changes limit efficacy of deoxynucleoside-based therapy in thymidine kinase 2-deficient miceResearch in context

EBioMedicine, 2019
Background: Thymidine kinase 2 (TK2) catalyses the phosphorylation of deoxythymidine (dThd) and deoxycytidine (dCtd) within mitochondria. TK2 deficiency leads to mtDNA depletion or accumulation of multiple deletions.
Cora Blázquez-Bermejo, David Molina-Granada, Ferran Vila-Julià, Daniel Jiménez-Heis, Xiaoshan Zhou, Javier Torres-Torronteras, Anna Karlsson, Ramon Martí, Yolanda Cámara   +8 more
doaj  

Mitochondrial involvement in Alzheimer’s disease

, 1999
E. Bonilla, Kurenai Tanji, Michio Hirano, Tuan Vu, S. DiMauro, Eric A. Schon   +5 more
openalex   +1 more source

Is Bax a mitochondrial mediator in apoptotic death of dopaminergic neurons in Parkinson's disease? [PDF]

, 2001
Andréas Hartmann, Patrick P. Michel, Jean‐Denis Troadec, Annick Mouatt‐Prigent, Baptiste Faucheux, Merle Ruberg, Y. Agid, Étienne C. Hirsch   +7 more
openalex   +1 more source