Search Results - "Henkel, Lisa"
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Functional and Molecular Properties of DYT-SGCE Myoclonus-Dystonia Patient-Derived Striatal Medium Spiny Neurons
Published in International journal of molecular sciences (30-03-2021)“…Myoclonus-dystonia (DYT-SGCE, formerly DYT11) is characterized by alcohol-sensitive, myoclonic-like appearance of fast dystonic movements. It is caused by…”
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Innate immune response to SARS‐CoV‐2 infection contributes to neuronal damage in human iPSC‐derived peripheral neurons
Published in Journal of medical virology (01-02-2024)“…Severe acute respiratory coronavirus 2 (SARS‐CoV‐2) causes neurological disease in the peripheral and central nervous system (PNS and CNS, respectively) of…”
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Natural and cryptic peptides dominate the immunopeptidome of atypical teratoid rhabdoid tumors
Published in Journal for immunotherapy of cancer (01-10-2021)“…BackgroundAtypical teratoid/rhabdoid tumors (AT/RT) are highly aggressive CNS tumors of infancy and early childhood. Hallmark is the surprisingly simple genome…”
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iPSC-Derived Striatal Medium Spiny Neurons from Patients with Multiple System Atrophy Show Hypoexcitability and Elevated α-Synuclein Release
Published in Cells (Basel, Switzerland) (04-01-2023)“…Multiple system atrophy of the parkinsonian type (MSA-P) is a rare, fatal neurodegenerative disease with sporadic onset. It is still unknown if MSA-P is a…”
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Generation of the human induced pluripotent stem cell line UKWNLi002-A from dermal fibroblasts of a woman with a heterozygous c.608 C>T (p.Thr203Met) mutation in exon 3 of the nerve growth factor gene potentially associated with hereditary sensory and autonomic neuropathy type 5
Published in Stem cell research (01-12-2018)“…In this study, we report the human induced pluripotent stem cell line (iPSC) HSAN5-T203 M-iPSC, generated from human dermal fibroblasts (HDF) of a woman…”
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Generation of two induced pluripotent stem cell lines from skin fibroblasts of sisters carrying a c.1094C>A variation in the SCN10A gene potentially associated with small fiber neuropathy
Published in Stem cell research (01-03-2019)“…Induced pluripotent stem cells (iPSC) were derived from human dermal fibroblasts (HDF) of two siblings with small fiber neuropathy (SFN) potentially based on…”
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Reduced Expression of GABAA Receptor Alpha2 Subunit Is Associated With Disinhibition of DYT-THAP1 Dystonia Patient-Derived Striatal Medium Spiny Neurons
Published in Frontiers in cell and developmental biology (21-05-2021)“…DYT-THAP1 dystonia (formerly DYT6) is an adolescent-onset dystonia characterized by involuntary muscle contractions usually involving the upper body. It is…”
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Autophagy activation, lipotoxicity and lysosomal membrane permeabilization synergize to promote pimozide- and loperamide-induced glioma cell death
Published in Autophagy (02-11-2021)“…Increasing evidence suggests that induction of lethal macroautophagy/autophagy carries potential significance for the treatment of glioblastoma (GBM). In…”
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Language Differences at 12 Months in Infants Who Develop Autism Spectrum Disorder
Published in Journal of autism and developmental disorders (01-03-2016)“…Little is known about early language development in infants who later develop autism spectrum disorder (ASD). We analyzed prospective data from 346 infants,…”
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Development of the Saini-Hodgins Addiction Risk Potential of Games (SHARP-G) Scale: An International Delphi study
Published in Journal of behavioral addictions (26-06-2024)“…As the gaming industry experiences exponential growth, concerns about gaming disorder (GD) also grow. It is crucial to understand the structural features of…”
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IMMU-28. DECIPHERING THE AT/RT LIGANDOME
Published in Neuro-oncology (Charlottesville, Va.) (22-06-2018)“…Abstract Atypical teratoid/rhabdoid tumors (AT/RTs) are commonly regarded as immunologically cold tumors, as they rank among malignancies with the lowest…”
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