Antje K. Huebner
Jena, TH 07747, Germany
Last Updated: 09/26/2026
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Found 20 publications
Metabolic acidosis causes a Fanconi-like syndrome with intracellular trafficking defects and proximal tubule dysfunction.
Journal: Science translational medicine
Published: February 11, 2026
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 30, 2023
Expression patterns of NKCC1 in neurons and non-neuronal cells during cortico-hippocampal development.
Journal: Cerebral cortex (New York, N.Y. : 1991)
Published: August 25, 2022
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
Journal: Brain : a journal of neurology
Published: April 08, 2022
The Cl--channel TMEM16A is involved in the generation of cochlear Ca2+ waves and promotes the refinement of auditory brainstem networks in mice.
Journal: eLife
Published: July 16, 2021
MiT/TFE factors control ER-phagy via transcriptional regulation of FAM134B.
Journal: The EMBO journal
Published: May 20, 2020
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
Journal: American journal of human genetics
Published: May 18, 2020
The implementation of knowledge dissemination in the prevention of occupational skin diseases.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: June 30, 2017
Early Hearing Loss upon Disruption of Slc4a10 in C57BL/6 Mice.
Journal: Journal of the Association for Research in Otolaryngology : JARO
Published: February 07, 2017
Intercalated Cell Depletion and Vacuolar H+-ATPase Mistargeting in an Ae1 R607H Knockin Model.
Journal: Journal of the American Society of Nephrology : JASN
Published: February 02, 2016
The ClC-K2 Chloride Channel Is Critical for Salt Handling in the Distal Nephron.
Journal: Journal of the American Society of Nephrology : JASN
Published: January 22, 2016
Last Updated: 09/26/2026