Results 171 to 180 of about 172,174 (293)

Gene therapy for thyroid cancer

, 2004
Thyroid carcinomas are suitable targets for gene therapy because they can be highly lethal on one hand, while being susceptible to specific tumour targeting on the other hand.
PACENTI, MONIA, BOSCARO, MARCO, PALU', GIORGIO, BARZON, LUISA   +3 more
core  

<i>KCNV2</i>-Deficient Retinal Organoid Model of Cone Dystrophy-In Vitro Screening for AAV Gene Replacement Therapy. [PDF]

Int J Mol Sci
Busson SL, Naeem A, Ferrara S, Sarcar S, Adefila-Ideozu T, Wells S, El Alami S, Boot J, Sladen PE, Michaelides M, Georgiadis A, Lane A.   +11 more
europepmc   +1 more source

Adeno-associated viral vector serotype 9-based gene replacement therapy for SURF1-related Leigh syndrome. [PDF]

Mol Ther Methods Clin Dev, 2021
Ling Q, Rioux M, Hu Y, Lee M, Gray SJ.
europepmc   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Development of an adeno-associated virus vector for gene replacement therapy of NF1-related tumors. [PDF]

Nat Commun
Bai RY, Shi J, Liu J, Sun N, Lu Y, Chen X, Xu M, Lim H, Li Y, Xu H, Weisgerber K, Ren Z, Pratilas CA, Blakeley JO, Fishel ML, Carrió M, Serra E, Staedtke V.   +17 more
europepmc   +1 more source

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

AAV microdystrophin gene replacement therapy for Duchenne muscular dystrophy: progress and prospects. [PDF]

Gene Ther
Chwalenia K, Feng VY, Hemmer N, Friedrichsen HJ, Vorobieva I, Wood MJA, Roberts TC.   +6 more
europepmc   +1 more source

Prognostic Value of Neurofilament Light Chain and Glial Fibrillary Acidic Protein in ALD‐Related Myelopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak, Marije M. C. Voermans, Hans Heijst, Charlotte E. Teunissen, Marc Engelen   +4 more
wiley   +1 more source

Correction: Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure

Frontiers in Pediatrics
Sarah Householder, Sarah Householder, Ruchit Nagar, Ruchit Nagar, Nisarg Shah, Jodi Forward, Sean Bickerton, Pramod Mistry, E. Vincent S. Faustino   +8 more
doaj   +1 more source

AAV8-based gene replacement therapy for hereditary spastic paraplegia type 5. [PDF]

Mol Ther Methods Clin Dev
Wiora L, Yuan Q, Hook S, Kraft M, Björkhem I, Ott M, Hauser S, Schöls L.   +7 more
europepmc   +1 more source