D. Hahn

发表

SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement

S. Gallati, A. Schaller, L. Euro, 2017, American journal of medical genetics. Part A.

Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency

S. Gallati, H. Prokisch, A. Schaller, 2013, Journal of Medical Genetics.

C-cytosolic and transmembrane domains of the N-benzoyl-L-tyrosyl-p-aminobenzoic acid hydrolase alpha subunit (human meprin alpha) are essential for its retention in the endoplasmic reticulum and C-terminal processing.

E. Sterchi, D. Lottaz, D. Hahn, 1997, European journal of biochemistry.

Activation of Human Meprin-α in a Cell Culture Model of Colorectal Cancer Is Triggered by the Plasminogen-activating System*

E. Sterchi, D. Lottaz, W. Stöcker, 2002, The Journal of Biological Chemistry.

Secretion of human meprin from intestinal epithelial cells depends on differential expression of the α and β subunits

E. Sterchi, D. Lottaz, D. Hahn, 1999 .

Congenital Maltase-Glucoamylase Deficiency Associated With Lactase and Sucrase Deficiencies

D. Swallow, P. Sen, B. Nichols, 2002, Journal of pediatric gastroenterology and nutrition.

Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation.

M. Gautschi, J. Häberle, V. Rüfenacht, 2015, Molecular genetics and metabolism.

Disruption of the histidine triad nucleotide‐binding hint2 gene in mice affects glycemic control and mitochondrial function

J. Dufour, Juliette Martin, M. V. St-Pierre, 2013, Hepatology.

Inhibition of recombinant human maltase glucoamylase by salacinol and derivatives

B. M. Pinto, D. Kuntz, B. Nichols, 2006, The FEBS journal.

The maltase-glucoamylase gene: Common ancestry to sucrase-isomaltase with complementary starch digestion activities

D. Swallow, P. Sen, B. Nichols, 2003, Proceedings of the National Academy of Sciences of the United States of America.

Metformin inhibits human androgen production by regulating steroidogenic enzymes HSD3B2 and CYP17A1 and complex I activity of the respiratory chain.

C. Flück, P. Mullis, P. Kempná, 2012, Endocrinology.

Disaccharidase Activities in Dyspeptic Children: Biochemical and Molecular Investigations of Maltase-Glucoamylase Activity

D. Swallow, P. Sen, B. Nichols, 2002, Journal of pediatric gastroenterology and nutrition.

Human Small Intestinal Maltase-glucoamylase cDNA Cloning

B. Nichols, A. Quaroni, E. Sterchi, 1998, The Journal of Biological Chemistry.

Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome

S. Gallati, A. Schaller, D. Belli, 2011, BMC neurology.

Nonpolarized secretion of human meprin alpha in colorectal cancer generates an increased proteolytic potential in the stroma.

M. Büchler, C. Maurer, E. Sterchi, 1999, Cancer research.

Role of AMP-Activated Protein Kinase on Steroid Hormone Biosynthesis in Adrenal NCI-H295R Cells

C. Flück, P. Mullis, P. Kempná, 2012, PloS one.

A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy.

A. Schaller, C. Jackson, D. Hahn, 2017, European journal of medical genetics.

Phorbol 12-Myristate 13-Acetate-induced Ectodomain Shedding and Phosphorylation of the Human Meprinβ Metalloprotease*

B. Leuenberger, E. Sterchi, D. Hahn, 2003, Journal of Biological Chemistry.

A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly

S. Gallati, A. Schaller, A. Haeberli, 2016, European Journal of Pediatrics.

Meprin mRNA in rat intestine during normal and glucocorticoid‐induced maturation: divergent patterns of expression of α and β subunits

S. Henning, E. Sterchi, D. Lottaz, 1999 .

Human meprin beta: O-linked glycans in the intervening region of the type I membrane protein protect the C-terminal region from proteolytic cleavage and diminish its secretion.

B. Leuenberger, E. Sterchi, D. Hahn, 2003, The Biochemical journal.

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

Robert W. Taylor, R. Durbin, T. Wieland, 2015, Annals of clinical and translational neurology.

Mitochondrial leucine tRNA level and PTCD1 are regulated in response to leucine starvation

B. Rothen‐Rutishauser, A. Schaller, C. Jackson, 2014, Amino Acids.

Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia.

S. Gallati, A. Schaller, C. Jackson, 2011, Mitochondrion.

Polarised expression of human intestinal N-benzoyl-L-tyrosyl-p-aminobenzoic acid hydrolase (human meprin) alpha and beta subunits in Madin-Darby canine kidney cells.

J. Fransen, H. Croes, E. Sterchi, 1997, European journal of biochemistry.

Mitochondrial tRNALeu(UUR) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study

A. Schaller, P. Jeannet, S. Jacquemont, 2010, Journal of Inherited Metabolic Disease.

Mitochondrial leucine tRNA level and PTCD1 are regulated in response to leucine starvation

B. Rothen‐Rutishauser, A. Schaller, C. Jackson, 2014, Amino Acids.

Novel mitochondrial tRNAIle m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype

S. Gallati, S. Frank, A. Schaller, 2014, British Journal of Ophthalmology.

N-Benzoyl-l-tyrosyl-p-aminobenzoic acid hydrolase β (human meprinβ)

B. Leuenberger, E. Sterchi, D. Hahn, 1999 .

Human N-benzoyl-L-tyrosyl-p-aminobenzoic acid hydrolase (human meprin): genomic structure of the alpha and beta subunits.

A. Metspalu, E. Sterchi, D. Hahn, 2000, The Biochemical journal.

Secretion of human meprin from intestinal epithelial cells depends on differential expression of the alpha and beta subunits.

E. Sterchi, D. Lottaz, D. Hahn, 1999, European journal of biochemistry.