M. Reichold

发表

KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function

Markus Rapedius, R. Witzgall, R. Kleta, 2010, Proceedings of the National Academy of Sciences.

KCNJ10 Mutations Disrupt Function in Patients with EAST Syndrome

L. Lingappa, M. Ognjanović, R. Kleta, 2011, Nephron Physiology.

Task3 potassium channel gene invalidation causes low renin and salt-sensitive arterial hypertension.

E. Lalli, J. Barhanin, T. Budde, 2012, Endocrinology.

Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy.

Johann M B Simbürger, P. Oefner, K. Dettmer, 2016, Cell reports.

Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.

P. Oefner, J. Reddy, M. Ilyas, 2014, The New England journal of medicine.

EAST-Syndrom

R. Kleta, M. Reichold, A. Zdebik, 2011, Der Nephrologe.

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

Johann M B Simbürger, P. Oefner, A. Hammers, 2018, Journal of the American Society of Nephrology : JASN.

CLN7/MFSD8 may be an important factor for SARS-CoV-2 cell entry

R. Witzgall, M. Reichold, I. Tegtmeier, 2022, iScience.

Renal Fanconi syndrome: taking a proximal look at the nephron.

R. Unwin, R. Kleta, M. Reichold, 2015, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

TWIK1, a unique background channel with variable ion selectivity

D. Douguet, S. Bendahhou, J. Barhanin, 2012, Proceedings of the National Academy of Sciences.

Renal Fanconi Syndrome I s Caused by a Mistargeting-Based Mitochondriopathy Graphical Abstract Highlights

Johann M B Simbürger, P. Oefner, K. Dettmer, 2016 .

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.

Dorothy A. Thompson, M. Hubank, J. Cross, 2009, The New England journal of medicine.

Balancing of mitochondrial translation through METTL8-mediated m3C modification of mitochondrial tRNAs.

P. Oefner, M. Minczuk, M. Hafner, 2021, Molecular cell.

Invalidation of TASK1 potassium channels disrupts adrenal gland zonation and mineralocorticoid homeostasis

W. Wisden, E. Lalli, S. Bendahhou, 2008, The EMBO journal.

Does Sumoylation Control K2P1/TWIK1 Background K+ Channels?

M. Lazdunski, S. Bendahhou, J. Barhanin, 2007, Cell.

Distinct Mitochondrial Pathologies Caused by Mutations of the Proximal Tubular Enzymes EHHADH and GATM

R. Kleta, A. Forst, M. Reichold, 2021, Frontiers in Physiology.

The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel

R. Kleta, M. Reichold, A. Zdebik, 2011, Pflügers Archiv - European Journal of Physiology.

Task2 potassium channels set central respiratory CO2 and O2 sensitivity

P. Pierson, M. Georgieff, S. Bendahhou, 2010, Proceedings of the National Academy of Sciences.

Dynamics of Renal Electrolyte Excretion in Growing Mice

M. Reichold, Katharina Schmidt, S. Bandulik, 2013, Nephron Physiology.

Organic cation transporters OCT1, 2, and 3 mediate high-affinity transport of the mutagenic vital dye ethidium in the kidney proximal tubule.

H. Koepsell, Wing-Kee Lee, F. Thévenod, 2009, American journal of physiology. Renal physiology.

KCNE Beta Subunits Determine pH Sensitivity of KCNQ1 Potassium Channels

M. Reichold, C. Sterner, I. Tegtmeier, 2007, Cellular Physiology and Biochemistry.

A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness

H. Schulze, P. Oefner, L. Tabernero, 2022, Journal of the American Society of Nephrology : JASN.

Rare but Relevant Kidney Disorders

Knepper, Dorothy A. Thompson, M. Hubank, 2009, Clinical Journal of the American Society of Nephrology.

Hammerle B., Elizalde C., Tejedor FJ.(2008) The Spatio-Temporal and subcellular Expression of the Candidate Down Syndrome Gene Mnb/Dyrk1A in the Developing Mouse Brain Suggests Distinct Sequential Roles in Neuronal Development. Eur. J. Neurosci. 27:1061-1074 (F.I.: 3.673 )

W. Wisden, N. Guy, M. Reichold, 2008 .