Search

Your search keyword '"Martina Krusen"' showing total 3 results
Start Over Author "Martina Krusen"
3 results on '"Martina Krusen"'

1. Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

Author

Peter Huppke, Susann Weissbach, Joseph A. Church, Rhonda Schnur, Martina Krusen, Steffi Dreha-Kulaczewski, W. Nikolaus Kühn-Velten, Annika Wolf, Brenda Huppke, Francisca Millan, Amber Begtrup, Fatima Almusafri, Holger Thiele, Janine Altmüller, Peter Nürnberg, Michael Müller, and Jutta Gärtner

Subjects
Science
Abstract

The NRF2 transcription factor regulates the response to stress in mammalian cells. Here, the authors show that activating mutations in NRF2, commonly found in cancer cells, are found in four patients with a multisystem disorder characterized by immunodeficiency and neurological symptoms.

Published
2017
Full Text
View/download PDF

2. FV 241. Mutations in NFE2L2 Lead to a Novel Treatable Neurological Disorder with Leukoencephalopathy

Author

Peter Huppke, Fatima Almusafri, Martina Krusen, Susann Weissbach, Amber Begtrup, Janine Altmüller, Holger Thiele, Joseph A. Church, Annika Wolf, Peter Nürnberg, Francisca Millan, Nikolaus Kühn-Velten, Steffi Dreha-Kulaczewski, Jutta Gärtner, Rhonda E. Schnur, Michael Müller, and Brenda Huppke

Subjects
Leukoencephalopathy, Pediatrics, medicine.medical_specialty, business.industry, medicine, Neurological disorder, medicine.disease, business, NFE2L2
Published
2018

3. Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

Author

Peter Huppke, Susann Weissbach, Joseph A. Church, Rhonda Schnur, Martina Krusen, Steffi Dreha-Kulaczewski, W. Nikolaus Kühn-Velten, Annika Wolf, Brenda Huppke, Francisca Millan, Amber Begtrup, Fatima Almusafri, Holger Thiele, Janine Altmüller, Peter Nürnberg, Michael Müller, and Jutta Gärtner

Subjects
Male, Adolescent, NF-E2-Related Factor 2, Science, Developmental Disabilities, education, Mutation, Missense, digestive system, environment and public health, Article, Humans, lcsh:Science, Child, Binding Sites, Kelch-Like ECH-Associated Protein 1, Learning Disabilities, Immunologic Deficiency Syndromes, Brain, Infant, Syndrome, respiratory system, Magnetic Resonance Imaging, humanities, Failure to Thrive, Gene Expression Regulation, Mutation, lcsh:Q, Female
Abstract

Transcription factor NRF2, encoded by NFE2L2, is the master regulator of defense against stress in mammalian cells. Somatic mutations of NFE2L2 leading to NRF2 accumulation promote cell survival and drug resistance in cancer cells. Here we show that the same mutations as inborn de novo mutations cause an early onset multisystem disorder with failure to thrive, immunodeficiency and neurological symptoms. NRF2 accumulation leads to widespread misregulation of gene expression and an imbalance in cytosolic redox balance. The unique combination of white matter lesions, hypohomocysteinaemia and increased G-6-P-dehydrogenase activity will facilitate early diagnosis and therapeutic intervention of this novel disorder., The NRF2 transcription factor regulates the response to stress in mammalian cells. Here, the authors show that activating mutations in NRF2, commonly found in cancer cells, are found in four patients with a multisystem disorder characterized by immunodeficiency and neurological symptoms.

Published
2016

Catalog

Books, media, physical & digital resources
See catalog results