Results 191 to 200 of about 74,541 (281)

Motor phenotypes and neurofilament light chain in genetic amyotrophic lateral sclerosis-results from a multicenter screening program. [PDF]

J Neurol
Schmitt P, Schumann P, Koerbs A, Lin HJ, Grehl T, Weyen U, Petri S, Rödiger A, Steinbach R, Großkreutz J, Bernsen S, Weydt P, Wolf J, Günther R, Baum P, Metelmann M, Weishaupt JH, Streubel B, Kasper DC, Koc Y, Kettemann D, Norden J, Walter B, Münch C, Spittel S, Maier A, Körtvélyessy P, Meyer T.   +27 more
europepmc   +1 more source

SOD2 to SOD1 Switch in Breast Cancer

, 2014
Luena Papa, Mary Hahn, Ellen L. Marsh, Bradley S. Evans, Doris Germain   +4 more
openalex   +1 more source

The IQ‐compete assay for measuring mitochondrial protein import efficiencies in living yeast cells

FEBS Letters, Volume 600, Issue 1, Page 48-62, January 2026.
The efficiency of mitochondrial protein import depends on the properties of the newly synthesized precursor proteins. The Import and de‐Quenching Competition (IQ‐compete) assay is a novel method to monitor the import efficiency of different proteins by fluorescence in living yeast cells.
Yasmin Hoffman, Annika Egeler, Saskia Rödl, Johannes M. Herrmann   +3 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, Volume 13, Issue 1, Page 131-143, January 2026.
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

Familial ALS With p. L127S (L126S) Variant of the Cu/Zn SOD1 Gene: A Report of Two New Cases and Literature Review. [PDF]

Neuropathology
Inoue K, Toyooka K, Fujimura H, Ueda K, Kaido M, Yamamoto Y, Izumi Y.   +6 more
europepmc   +1 more source

Genomic Structure of the Cu/Zn Superoxide Dismutase(SOD1) Gene from the Entomopathogenic Fungus, Cordyceps pruinosa

, 2019
Nam Sook Park, Byung Rae Jin, Sang Mong Lee   +2 more
openalex   +1 more source

EphrinB2 knockdown in cervical spinal cord preserves diaphragm innervation in a mutant SOD1 mouse model of ALS

Mark W. Urban, Brittany A. Charsar, Nicolette M. Heinsinger, Shashirekha S. Markandaiah, Lindsay Sprimont, Wei Zhou, Eric V. Brown, Nathan T. Henderson, Samantha J. Thomas, Biswarup Ghosh, Rachel Cain, Davide Trotti, Piera Pasinelli, Megan C. Wright, Matthew B. Dalva, Angelo C. Lepore   +15 more
openalex   +1 more source

Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

Annals of Clinical and Translational Neurology, Volume 13, Issue 1, Page 170-179, January 2026.
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Chikashi Yano, Takahiro Hobara, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +13 more
wiley   +1 more source

Metabolic reprogramming in amyotrophic lateral sclerosis ependymal stem cells by FM19G11 nanotherapy. [PDF]

Sci Rep
Cattaneo M, Bonanomi M, Chirizzi C, Malacarne C, Giagnorio E, Farinazzo G, Bonanno S, Porro D, Lauria G, Metrangolo P, Bombelli FB, Gaglio D, Marcuzzo S.   +12 more
europepmc   +1 more source

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

Advanced Science, Volume 13, Issue 4, 19 January 2026.
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