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Orphanet Journal of Rare Diseases|August 4, 2016
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucomaLucia Mauri, Steffen Uebe, Heinrich Sticht, et al.
Plos Pathogens|August 25, 2016
The Prolyl Isomerase Pin1 Promotes the Herpesvirus-Induced Phosphorylation-Dependent Disassembly of the Nuclear Lamina Required for Nucleocytoplasmic EgressJens Milbradt, Corina Hutterer, Hanife Bahsi, et al.
Cellular and Molecular Life Sciences : CMLS|August 9, 2022
A previously unknown Argonaute 2 variant positively modulates the viability of melanoma cellsLisa Linck-Paulus, Tina Meißgeier, Katharina Pieger, et al.
Antiviral Research|April 18, 2025
The conserved core nuclear egress complex (NEC) as an antiherpesviral drug target: Pharmacophore-based identification of NEC-specific inhibitorsJulia Tillmanns, Verena Battisti, Jintawee Kicuntod, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2019
Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotoniaZafar Iqbal, Hasan Tawamie, Wei Ba, et al.
Genes & Development|July 5, 2006
Casein kinase 2-dependent serine phosphorylation of MuSK regulates acetylcholine receptor aggregation at the neuromuscular junctionTatiana Cheusova, Muhammad Amir Khan, Steffen Wolfgang Schubert, et al.
Orphanet Journal of Rare Diseases|September 30, 2016
SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing lossRebecca Buchert, Addie I Nesbitt, Hasan Tawamie, et al.
The Biochemical Journal|August 19, 2018
IFN-γ-response mediator GBP-1 represses human cell proliferation by inhibiting the Hippo signaling transcription factor TEADBea Unterer, Veit Wiesmann, Mekala Gunasekaran, et al.
Human Mutation|May 28, 2011
Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type IAnnelies Rotthier, Anke Penno, Bernd Rautenstrauss, et al.
Alzheimer'S Research & Therapy|January 22, 2022
A novel D-amino acid peptide with therapeutic potential (ISAD1) inhibits aggregation of neurotoxic disease-relevant mutant Tau and prevents Tau toxicity in vitroIsabelle Aillaud, Senthilvelrajan Kaniyappan, Ram Reddy Chandupatla, et al.
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