Results 141 to 150 of about 382,530 (347)

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease. Super oxide dismutase 1 (SOD1) gene mutations cause ALS, and the D90A mutation is associated with primarily upper motor neuron (UMN) loss. Objective Our goal is to reveal the early cellular events in ALS pathology and identify potential pharmacokinetic biomarkers, using well ...
Mukesh Gautam, Ali Laith, Aslihan Gunel, Melda Yilmaz, Nazli Basak, Halil Idrisoglu, P. Hande Ozdinler   +6 more
wiley   +1 more source

Mitochondrial dysfunction signatures in idiopathic primary male infertility: a validated proteomics-based diagnostic approach

Frontiers in Reproductive Health
Research questionMale infertility accounts for almost half of all infertility cases worldwide, with idiopathic male infertility accounting for up to 30% of the cases.
Raneen Sawaid Kaiyal, Sromona D. Mukherjee, Manesh Kumar Panner Selvam, Aaron W. Miller, Aaron W. Miller, Sarah C. Vij, Scott D. Lundy   +6 more
doaj   +1 more source

Is the mitochondrion a promising drug target in trypanosomatids? [PDF]

, 2022
Yasmin Pedra-Rezende, Ana Cristina S. Bombaça, Rubem F. S. Menna‐Barreto   +2 more
openalex   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

A Spatially Resolved View on the Aging Substantia nigra: An Exploratory Proteomic Study

Advanced Biology, EarlyView.
Although aging is the most important risk factor for several neurodegenerative diseases, the molecular effects of physiological aging are still understudied. By applying spatially‐resolved proteomic analyses of the human substantia nigra pars compacta, alterations in vesicular trafficking and mitochondrial proteins are observed, as well as reduced ...
Britta Eggers, Maximilian Hausherr, Michel Lim, Karin Schork, Bilhan Karacora, Robin Grugel, Martin Eisenacher, Isabel Gil Aldea, Peter Riederer, Manfred Gerlach, Katrin Marcus   +10 more
wiley   +1 more source

Fecal microbiota transplantation provides insights into the consequences of transcriptome profiles and cell energy in response to circadian misalignment of chickens

Poultry Science
: The circadian misalignment (CM) disordered circadian rhythms exert adverse effects on animals. Poultry as one of animals suffers health and welfare problems due to long-term lighting photoperiods caused by CM.
Siyu Chen, Hao Liu, Chao Yan, Yushan Li, Jinlong Xiao, Xingbo Zhao   +5 more
doaj   +1 more source

Effects of Anoxia and the Mitochondrion on Expression of Aerobic Nuclear COX Genes in Yeast [PDF]

, 2001
Chris Dagsgaard, Lynn Taylor, Kristin M. O’Brien, Robert Ο. Poyton   +3 more
openalex   +1 more source

A consistently performing mitochondrion for every season [PDF]

, 2020
Erin S. McCallum
openalex   +1 more source

FeDSNP‐Pa Nanoassemblies: A Triple‐Action Therapeutic Strategy Targeting Oxidative Stress, Inflammation, and Pyroptosis for Retinal Ganglion Cell Protection in Glaucoma

Advanced Functional Materials, EarlyView.
FeDSNP‐Pa, a metallized nanoparticle loaded with sodium pyruvate (Pa), exerts triple therapeutic effects by scavenging reactive oxygen species (ROS), suppressing inflammatory responses, and inhibiting pyroptosis signaling pathways. This multifunctional neuroprotective strategy protecting retinal ganglion cells (RGCs) from elevated intraocular pressure ...
Yukun Wu, Xue Li, Tong Wu, Dan Ji, Yugang Bai, Xuezhi Zhou   +5 more
wiley   +1 more source