Results 101 to 110 of about 160,746 (308)

Restriction of trophic factors and nutrients induces PARKIN expression [PDF]

, 2011
Parkinson's disease (PD) is the most frequent neurodegenerative movement disorder and manifests at old age. While many details of its pathogenesis remain to be elucidated, in particular the protein and mitochondrial quality control during stress ...
Klinkenberg, Michael, Auburger, Georg, S. Gispert, Braun, Isabelle, M. Klinkenberg, Dominguez Bautista, Jorge Antolio, M. Jendrach, Gispert, Suzana, G. Auburger, J. A. Dominguez-Bautista, I. Braun, Jendrach, Marina   +11 more
core   +1 more source

Neuroimaging in Mitochondrial Disorders [PDF]

Neurotherapeutics, 2013
Mutations in either nuclear DNA or mitochondrial DNA can result in disruption of oxidative phosphorylation and lead to mitochondrial dysfunction. Mitochondrial disease manifestations occur predominantly in the central nervous system, peripheral nervous system, and/or involve several organ systems.
openaire   +2 more sources

[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich, Jonathan A. Gernert, Hanna Zimmermann, Lisa Tagnin, Marianthi Zeinaki, Laura Sanzo, Letizia Vogler, Elisabeth Kaufmann, Justina Dargvainiene, Frank Leypoldt, Gérard N. Bischof, Robert Perneczky, Boris‐Stephan Rauchmann, Simon Lindner, Günter U. Höglinger, Rudolf A. Werner, Martin Kerschensteiner, Tania Kümpfel, Matthias Brendel, Franziska S. Thaler   +19 more
wiley   +1 more source

Mitochondrial disorders and the kidney [PDF]

Archives of Disease in Childhood, 1998
Mitochondrial disorders are genetic defects of oxidative phosphorylation which can affect different organs or tissues.1 2 These disorders have long been regarded as neuromuscular diseases only,3 but it now appears that they can affect a number of other organs including the heart, liver, pancreas, haematopoietic system, and the kidneys.4 Renal symptoms ...
openaire   +2 more sources

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

The bioenergetic status relates to dopamine neuron loss in familial PD with PINK1 mutations

, 2012
Mutations in the PINK1 gene cause autosomal recessive familial Parkinson’s disease (PD). The gene encodes a mitochondrial protein kinase that plays an important role in maintaining mitochondrial function and integrity.
Johann Hagenah, Neumaier, Bernd, Roggendorf, J., Julia Roggendorf, Roggendorf, Julia, Johannes C Klein, Hattingen, E., Steinmetz, H., Hagenah, Johann, Hagenah, J., Klein, Johannes C., Eggers, C., Hilker, Rüediger, Klein, Christine, Hattingen, Elke, Klein, C., Fink, Gereon R., Pilatus, U., Ulrich Pilatus, Elke Hattingen, Bernd Neumaier, Klein, Johannes Christian, Baudrexel, S., Hilker, Rüdiger, Eggers, Carsten, Neumaier, B., Hagenah, Johann Meinert, Carsten Eggers, Klein, J., Helmuth Steinmetz, Fink, Gereon Rudolf, Steinmetz, Helmuth, Pilatus, Ulrich, Fink, G., Rüediger Hilker, Baudrexel, Simon, Gereon R Fink, Christine Klein, Hilker, R., Simon Baudrexel   +39 more
core   +1 more source

From Rare Disorders of Kidney Tubules to Acute Renal Injury: Progress and Prospective

Kidney Diseases
Background: Acute kidney injury (AKI) is a severe condition marked by rapid renal function deterioration and elevated mortality, with traditional biomarkers lacking sensitivity and specificity.
Jiaying Li, Fangxing Hou, Ning Lv, Ruohuan Zhao, Lei Zhang, Cai Yue, Min Nie, Limeng Chen   +7 more
doaj   +1 more source

Longitudinal Assessment of Biomarkers in ALS: Discriminative Biomarkers for Disease Progression and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers, Yueh‐Yun Lin, Jason R. Thonhoff, Aaron D. Thome, Alireza Faridar, Weihua Zhao, Shixiang Wen, Stanley H. Appel   +7 more
wiley   +1 more source

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

The Spectrum of clinical manifestations in newborns with the COQ4 mutation: case series and literature review

Frontiers in Pediatrics
BackgroundCoenzyme Q10 (CoQ10) plays an important role in the electron transport chain within the human mitochondrial respiratory chain. The manifestations of this deficiency exhibit a diverse range. This study investigates the clinical manifestations of
Pianpian Pan, Na Zhou, Yi Sun, Zhengrong Chen, Jin Han, Wei Zhou   +5 more
doaj   +1 more source