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Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome.

• Marc-Alexander Rauschendorf, Meike Jost, +11 authors Stephan Klebe
• Movement disorders : official journal of the…
• 2017

Regulatory interplay of Cockayne syndrome B ATPase and stress-response gene ATF3 following genotoxic stress.

• Ulrik Kristensen, Alexey Epanchintsev, +5 authors Jean-Marc Egly
• Proceedings of the National Academy of Sciences…
• 2013

Cockayne syndrome type B ATPase (CSB) belongs to the SwItch/Sucrose nonfermentable family. Its mutations are linked to Cockayne syndrome phenotypes and classically are thought to be caused by defects… (More)

DDX3X, the X homologue of AZFa gene DDX3Y, expresses a complex pattern of transcript variants only in the male germ line.

• Marc-Alexander Rauschendorf, Jutta Zimmer, Caroline Ohnmacht, Peter H. Vogt
• Molecular human reproduction
• 2014

DDX3X, the functional X homologue of the major AZFa gene, DDX3Y, belongs to the highly conserved PL10-subfamily of DEAD-box RNA helicase genes which are functionally conserved from yeast to man. They… (More)

Cockayne's Syndrome A and B Proteins Regulate Transcription Arrest after Genotoxic Stress by Promoting ATF3 Degradation.

• Alexey Epanchintsev, Federico Costanzo, +7 authors Jean-Marc Egly
• Molecular cell
• 2017

Cockayne syndrome (CS) is caused by mutations in CSA and CSB. The CSA and CSB proteins have been linked to both promoting transcription-coupled repair and restoring transcription following DNA… (More)

Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.

• Lisa S. Heinz, Gwang-Jin Kim, +7 authors Judith B. Fischer
• American journal of human genetics
• 2017

Ichthyoses are a clinically and genetically heterogeneous group of genodermatoses associated with abnormal scaling of the skin over the whole body. Mutations in nine genes are known to cause… (More)

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