A. Huebner

发表

A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.

C. Redies, V. Álvarez, A. Irintchev, 2013, The Journal of clinical investigation.

In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11

M. Damme, Birgit Hoffmann, C. Biskup, 2015, PLoS genetics.

Increased Expression of Transthyretin in Leptin‐Deficient ob/ob Mice is not Causative for Their Major Phenotypic Abnormalities

M. Amling, T. Streichert, A. Huebner, 2013, Journal of neuroendocrinology.

The role of calcitonin and alpha-calcitonin gene-related peptide in bone formation.

R. Emeson, M. Amling, T. Streichert, 2008, Archives of biochemistry and biophysics.

Regulation of endoplasmic reticulum turnover by selective autophagy

I. Katona, I. Dikic, J. Weis, 2015, Nature.

Early Hearing Loss upon Disruption of Slc4a10 in C57BL/6 Mice

S. Nietzsche, J. Praetorius, A. Huebner, 2019, Journal of the Association for Research in Otolaryngology.

A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule

Dennis Brown, T. Jentsch, N. Picard, 2012, EMBO molecular medicine.

Mice over-expressing salmon calcitonin have strongly attenuated osteoarthritic histopathological changes after destabilization of the medial meniscus.

M. Karsdal, M. Amling, A. Huebner, 2012, Osteoarthritis and cartilage.

Calcitonin Deficiency in Mice Progressively Results in High Bone Turnover

R. Emeson, A. Schilling, M. Amling, 2006, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

The ClC-K2 Chloride Channel Is Critical for Salt Handling in the Distal Nephron.

R. Chambrey, T. Jentsch, M. Paulais, 2017, Journal of the American Society of Nephrology : JASN.

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.

S. Mane, T. Nägele, T. Meitinger, 2020, American journal of human genetics.

Intercalated Cell Depletion and Vacuolar H+-ATPase Mistargeting in an Ae1 R607H Knockin Model.

F. Trepiccione, Dennis Brown, S. Alper, 2017, Journal of the American Society of Nephrology : JASN.

Disruption of vascular Ca2+-activated chloride currents lowers blood pressure.

C. Heinze, M. Gollasch, H. Ehmke, 2014, The Journal of clinical investigation.

Lack of the Sodium-Driven Chloride Bicarbonate Exchanger NCBE Impairs Visual Function in the Mouse Retina

S. Löwel, R. Weiler, N. Tanimoto, 2012, PloS one.

A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System

L. Schöls, C. Biskup, M. Kessels, 2013, PLoS genetics.

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

G. Nürnberg, P. Nürnberg, V. Timmerman, 2009, Nature Genetics.

Neuronal carbonic anhydrase VII provides GABAergic excitatory drive to exacerbate febrile seizures

Juha Voipio, Ilya Kirilkin, J. Voipio, 2013, The EMBO journal.

Calcitonin controls bone formation by inhibiting the release of sphingosine 1-phosphate from osteoclasts

H. Fuchs, E. Wolf, J. Chun, 2014, Nature Communications.

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.

Y. Wada, E. Schaftingen, S. Mahmood, 2013, American journal of human genetics.

Impaired gastric acidification negatively affects calcium homeostasis and bone mass

G. Sauter, A. Schulz, R. Simon, 2009, Nature Medicine.

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.

F. Wagner, P. Frommolt, G. Nürnberg, 2011, American journal of human genetics.

MiT/TFE factors control ER‐phagy via transcriptional regulation of FAM134B

A. Ballabio, M. Mann, F. Sacco, 2020, The EMBO journal.

The Cl-- channel TMEM 16 A is involved in the 8 generation of cochlear Ca 2 + waves and promotes the 9 refinement of auditory brainstem networks in mice 10 11

T. Moser, N. Strenzke, A. Huebner, 2022 .

The Cl--channel TMEM16A is involved in the generation of cochlear Ca2+ waves and promotes the refinement of auditory brainstem networks in mice

Saša Virijević Jovanović, R. Rübsamen, T. Moser, 2022, eLife.

The Cl--channel TMEM16A controls the generation of cochlear Ca2+ waves and promotes the refinement of auditory brainstem networks

Saša Virijević Jovanović, R. Rübsamen, T. Moser, 2021, bioRxiv.

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

G. Hummer, A. Huebner, C. Hübner, 2021, EMBO reports.

GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation.

I. Katona, A. Ori, J. Weis, 2021, The Journal of clinical investigation.

Disruption of vascular Ca2+-activated chloride currents lowers blood pressure.

C. Heinze, M. Gollasch, H. Ehmke, 2014, The Journal of clinical investigation.

SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission

P. Schlattmann, K. Kaila, F. Alkuraya, 2023, Brain : a journal of neurology.