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Your search keyword '"Huebner, Antje K"' showing total 23 results

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23 results on '"Huebner, Antje K"'

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1. SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission

2. Role of FAM134 paralogues in endoplasmic reticulum remodeling, ER‐phagy, and Collagen quality control

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

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

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