[HTML][HTML] Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man

U Kornak, D Kasper, MR Bösl, E Kaiser, M Schweizer… - Cell, 2001 - cell.com
Chloride channels play important roles in the plasma membrane and in intracellular
organelles. Mice deficient for the ubiquitously expressed ClC-7 Cl − channel show severe …

[PDF][PDF] Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus

…, T Breiderhoff, S Takamori, D Engel, M Schweizer… - Neuron, 2001 - cell.com
Several plasma membrane chloride channels are well characterized, but much less is known
about the molecular identity and function of intracellular Cl − channels. ClC-3 is thought to …

KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway

…, S Safieddine, M Schweizer… - Proceedings of the …, 2000 - National Acad Sciences
Mutations in the potassium channel gene KCNQ4 underlie DFNA2, an autosomal dominant
form of progressive hearing loss in humans. In the mouse cochlea, the transcript has been …

Loss of the chloride channel ClC‐7 leads to lysosomal storage disease and neurodegeneration

…, A Schmitt, M Poët, R Steinfeld, M Schweizer… - The EMBO …, 2005 - embopress.org
ClC‐7 is a chloride channel of late endosomes and lysosomes. In osteoclasts, it may cooperate
with H + ‐ATPases in acidifying the resorption lacuna. In mice and man, loss of ClC‐7 or …

[PDF][PDF] The blood-brain barrier is dysregulated in COVID-19 and serves as a CNS entry route for SARS-CoV-2

…, S Pfefferle, MS Woo, F Heinrich, M Schweizer… - Stem cell reports, 2022 - cell.com
Neurological complications are common in COVID-19. Although SARS-CoV-2 has been
detected in patients' brain tissues, its entry routes and resulting consequences are not well …

[PDF][PDF] Metabolic maturation media improve physiological function of human iPSC-derived cardiomyocytes

…, B Ulmer, H Zhang, F Briganti, M Schweizer… - Cell reports, 2020 - cell.com
Induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) have enormous potential
for the study of human cardiac disorders. However, their physiological immaturity severely …

Age-dependent neurodegeneration and Alzheimer-amyloid plaque formation in transgenic Drosophila

…, A Beyn, C Brellinger, M Schweizer… - Journal of …, 2004 - Soc Neuroscience
β-Amyloid peptides that are cleaved from the amyloid precursor protein (APP) play a critical
role in Alzheimer's disease (AD) pathophysiology. Here, we show that in Drosophila, the …

[HTML][HTML] Choroid plexus transcytosis and exosome shuttling deliver folate into brain parenchyma

M Grapp, A Wrede, M Schweizer, S Hüwel… - Nature …, 2013 - nature.com
Loss of folate receptor-α function is associated with cerebral folate transport deficiency and
childhood-onset neurodegeneration. To clarify the mechanism of cerebral folate transport at …

Synapsin I is an oligomannose-carrying glycoprotein, acts as an oligomannose-binding lectin, and promotes neurite outgrowth and neuronal survival when released …

S Wang, F Cesca, G Loers, M Schweizer… - Journal of …, 2011 - Soc Neuroscience
Oligomannosidic glycans play important roles in nervous system development and function.
By performing a phage display screening with oligomannose-specific antibodies, we …

Oligomerization of KCC2 correlates with development of inhibitory neurotransmission

…, I Guillemin, J Schindler, M Schweizer… - Journal of …, 2006 - Soc Neuroscience
The neuron-specific K + –Cl − cotransporter KCC2 extrudes Cl − and renders GABA and
glycine action hyperpolarizing. Thus, it plays a pivotal role in neuronal inhibition. Development-…