Results 201 to 210 of about 1,204,389 (301)

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

The role of HECT-type E3 ubiquitin ligases in DNA damage response and repair. [PDF]

Cell Death Discov
Giovannini S, Fiorilli C, Moriconi V, Shi Y, Candi E, Melino G, Bernassola F.   +6 more
europepmc   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Cholangiocytes' primary cilia regulate DNA damage response and repair. [PDF]

Am J Physiol Gastrointest Liver Physiol
Peixoto E, Pant K, Richard S, Popoca JP, Abrahante JE, Czaja W, Gradilone SA.   +6 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

Next Generation DNA Damage Response Inhibitors: Harnessing Nanocarriers and Tumor Microenvironment for Precision Cancer Therapy. [PDF]

Oncol Res
Solomon AD, Vats HK, Chowdhary S, Kanoujiya SN, Prakash A, Sultana H, Mohanty S, Day BW, Pant T.   +8 more
europepmc   +1 more source

DNA Damage Response Deficiency [PDF]

, 2020
openaire   +1 more source

Serum Soluble Mediator Signatures of Lupus Nephritis: Histologic Features and Response to Treatment

Arthritis Care &Research, EarlyView.
Objective Lupus nephritis (LN) management remains challenging, and novel noninvasive biomarkers are needed. This study quantified serum soluble mediators in the Accelerating Medicines Partnership (AMP) LN cohort to identify biomarkers of histologic features and treatment response.
Andrea Fava, Catriona A. Wagner, Carla J. Guthridge, Susan Macwana, Wade DeJager, Melissa E. Munroe, Peter Izmirly, H. Michael Belmont, Betty Diamond, Anne Davidson, Paul J. Utz, Michael H. Weisman, Philip M. Carlucci, Maria Dall'Era, Kenneth Kalunian, Chaim Putterman, Jennifer Anolik, Jennifer L. Barnas, David Wofsy, Diane Kamen, Richard A. Furie, Deepak A. Rao, the Accelerating Medicines Partnership Rheumatoid Arthritis and Systemic Lupus Erythematosus Network, Chun‐Hao Lee, Derek Fine, Manny Monroy‐Trujillo, Ummara Shah, Mariko Ishimori, Robert M. Clancy, Michael Belmont, Ming Wu, Nicole Bornkamp, Evan Der, Beatrice Goilav, Nicole Jordan, Daniel Schwartz, James Pullman, David Wofsy, Dawn Smilek, Patti Tosta, Matthias Kretzler, Celine C. Berthier, E. Steve Woodle, Dave Hildeman, Michael Brenner, Michelle Petri, Joel M. Guthridge, Jill Buyon, Judith A. James   +48 more
wiley   +1 more source

DNA damage response pathway is a promising therapeutic target for extrachromosomal DNA-positive tumours. [PDF]

Clin Transl Med
Tian C, Gan H.
europepmc   +1 more source

The Renal Activity Index for Lupus Identifies Active Renal Disease and Treatment Response in Adult Patients With Systemic Lupus Erythematosus and Lupus Nephritis

Arthritis Care &Research, EarlyView.
Objective We evaluated the ability of the Renal Activity Index for Lupus (RAIL) to discriminate active lupus nephritis (LN) in adult patients with active systemic lupus erythematosus (SLE) and differentiate LN treatment response. Methods Urine samples from adults with biopsy‐proven active class III and IV LN from TULIP‐LN (active LN group ...
Hermine I. Brunner, Ellen M. Cody, Prasad Devarajan, Bin Huang, Chen Chen, Dominic Sinibaldi, Madhu Ramaswamy, Jacob Knagenhjelm, Frederick Jones, Philip Z. Brohawn, Raj Tummala, Catharina Lindholm, Wendy I. White   +12 more
wiley   +1 more source