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Acta Neuropathologica|February 2, 2024
Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patientsLaura Krumm, Tatyana Pozner, Naime Zagha, et al.
Autophagy|May 12, 2026
Intracellular lipopolysaccharide binds RETREG1/FAM134B to regulate ER remodeling upon bacterial infectionYi-Lin Cheng, João Mello-Vieira, Adriana Covarrubias-Pinto, et al.
Nature Genetics|January 11, 2011
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunityEkkehart Lausch, Andreas Janecke, Matthias Bros, et al.
Brain : a Journal of Neurology|January 25, 2014
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3Uwe Kornak, Inès Mademan, Marte Schinke, et al.
Nature|May 24, 2023
Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagyHector Foronda, Yangxue Fu, Adriana Covarrubias-Pinto, et al.
Nature Genetics|September 17, 2013
A de novo gain-of-function mutation in SCN11A causes loss of pain perceptionEnrico Leipold, Lutz Liebmann, G Christoph Korenke, et al.
Science Translational Medicine|February 11, 2026
Metabolic acidosis causes a Fanconi-like syndrome with intracellular trafficking defects and proximal tubule dysfunctionJ Christopher Hennings, Keerthana S Murthy, Nicolas Picard, et al.
The Journal of Clinical Investigation|April 15, 2010
The Na+-dependent chloride-bicarbonate exchanger SLC4A8 mediates an electroneutral Na+ reabsorption process in the renal cortical collecting ducts of miceFrançoise Leviel, Christian A Hübner, Pascal Houillier, et al.
Nature Reviews. Disease Primers|June 17, 2022
Genetic pain loss disordersAnnette Lischka, Petra Lassuthova, Arman Çakar, et al.
Cerebral Cortex (New York, N.Y. : 1991)|March 10, 2020
DNA Methylation-Mediated Modulation of Endocytosis as Potential Mechanism for Synaptic Function Regulation in Murine Inhibitory Cortical InterneuronsDaniel Pensold, Julia Reichard, Karen M J Van Loo, et al.
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