Publications by authors named "Merle Hillebrand"

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Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity.
Elinor Lazarov, Merle Hillebrand, Simone Schröder, Katharina Ternka, Julia Hofhuis

Neurobiol Dis· September 2020

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Methotrexate treatment of FraX fibroblasts results in FMR1 transcription but not in detectable FMR1 protein levels.
Cornelia Brendel, Benjamin Mielke, Merle Hillebrand, Jutta Gärtner, Peter Huppke

J Neurodev Disord· September 2013

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Identification of a new fatty acid synthesis-transport machinery at the peroxisomal membrane.
Merle Hillebrand, Søren W Gersting, Amelie S Lotz-Havla, Annika Schäfer, Hendrik Rosewich

J Biol Chem· January 2012

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Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
Peter Huppke, Cornelia Brendel, Vera Kalscheuer, Georg Christoph Korenke, Iris Marquardt, Merle Hillebrand

Am J Hum Genet· January 2012

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Live cell FRET microscopy: homo- and heterodimerization of two human peroxisomal ABC transporters, the adrenoleukodystrophy protein (ALDP, ABCD1) and PMP70 (ABCD3).
Merle Hillebrand, Sophie E Verrier, Andreas Ohlenbusch, Annika Schäfer, Hans-Dieter Söling

J Biol Chem· September 2007

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Cathepsin D deficiency is associated with a human neurodegenerative disorder.
Robert Steinfeld, Konstanze Reinhardt, Kathrin Schreiber, Merle Hillebrand, Ralph Kraetzner

Am J Hum Genet· June 2006

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