Results 271 to 280 of about 408,305 (347)

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

Removal of the large inverted repeat from the plastid genome reveals gene dosage effects and leads to increased genome copy number. [PDF]

Nat Plants
Krämer C, Boehm CR, Liu J, Ting MKY, Hertle AP, Forner J, Ruf S, Schöttler MA, Zoschke R, Bock R.   +9 more
europepmc   +1 more source

Manganese superoxide dismutase gene dosage affects chromosomal instability and tumor onset in a mouse model of T cell lymphoma

, 2008
Christopher I. van de Wetering, Mitchell C. Coleman, Douglas R. Spitz, Brian J. Smith, C. Michael Knudson   +4 more
openalex   +2 more sources

Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane, Anna Capasso, Chiara Arpaia, Adele D’Amico, Emilio Albamonte, Federica Trucco, Maria Sframeli, Riccardo Masson, Francesca Magri, Luca Bello, Romina Venditti, Claudia Dosi, Michela Catteruccia, Michele Tosi, Claudio Bruno, Sonia Messina, Giacomo Comi, Elena Pegoraro, Valeria A. Sansone, Eugenio Mercuri   +19 more
wiley   +1 more source

Gene Dosage Balance in Cellular Pathways [PDF]

Genetics, 2004
openaire   +1 more source

Fas^lpr gene dosage tunes the extent of lymphoproliferation and T cell differentiation in lupus. [PDF]

Clin Immunol
Bohat R, Liang X, Chen Y, Xu C, Zheng N, Guerrero A, Hou J, Jaffery R, Egan NA, Li Y, Tang Y, Unsal E, Robles A, Chen S, Major AM, Elldakli H, Chung SH, Liang H, Hicks MJ, Du Y, Lin JS, Chen X, Mohan C, Peng W.   +23 more
europepmc   +1 more source

Association of PHEX Gene Dosage With Meniere Disease and Related Audiovestibular Phenotypes in X-Linked Hypophosphatemia

Paula Robles-Bolívar, David Bächinger, Arpan Bose, Kimberly Ramirez, Alison Brown, Amy F. Juliano, Jose Antonio Lopez-Escamez, Sharon G. Kujawa, Eva S. Liu, Sami S. Amr, Steven D. Rauch, Andreas H. Eckhard, Divya A. Chari   +12 more
openalex   +2 more sources

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Gene-dosage- and sex-dependent differences in the prodromal-Like phase of the F344tgHD rat model for Huntington disease. [PDF]

Front Neurosci
Ratz-Wirsching V, Habermeyer J, Moceri S, Harrer J, Schmitz C, von Hörsten S.   +5 more
europepmc   +1 more source