23 results on '"Huebner, Antje K"'
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2. Role of FAM134 paralogues in endoplasmic reticulum remodeling, ER‐phagy, and Collagen quality control
3. The Cl--channel TMEM16A controls the generation of cochlear Ca2+ waves and promotes the refinement of auditory brainstem networks
4. Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia
5. MiT/ TFE factors control ER ‐phagy via transcriptional regulation of FAM 134B
6. Early Hearing Loss upon Disruption of Slc4a10 in C57BL/6 Mice
7. Renal collecting duct plasticity revealed by intercalated cell lineage tracing
8. Intercalated Cell Depletion and Vacuolar H+-ATPase Mistargeting in an Ae1 R607H Knockin Model
9. The ClC-K2 Chloride Channel Is Critical for Salt Handling in the Distal Nephron
10. In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11
11. Regulation of endoplasmic reticulum turnover by selective autophagy
12. Calcitonin controls bone formation by inhibiting the release of sphingosine 1-phosphate from osteoclasts
13. Disruption of vascular Ca2+-activated chloride currents lowers blood pressure
14. A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System
15. Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction
16. Neuronal carbonic anhydrase VII provides GABAergic excitatory drive to exacerbate febrile seizures
17. Lack of the Sodium-Driven Chloride Bicarbonate Exchanger NCBE Impairs Visual Function in the Mouse Retina
18. A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V‐ATPase a4 subunit in the proximal tubule
19. Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss
20. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy
21. Impaired gastric acidification negatively affects calcium homeostasis and bone mass
22. The role of calcitonin and α-calcitonin gene-related peptide in bone formation
23. Calcitonin Deficiency in Mice Progressively Results in High Bone Turnover
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