Philip Seibler

发表

A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient

E. Altenmüller, H. Siebner, N. Brüggemann, 2008, The Lancet Neurology.

Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18‐Year Study

S. Szymczak, K. Lohmann, C. Depienne, 2022, Movement disorders : official journal of the Movement Disorder Society.

Genetic and Environmental Factors in Parkinson's Disease Converge on Immune Function and Inflammation

M. Tansey, C. Klein, P. Seibler, 2020, Movement disorders : official journal of the Movement Disorder Society.

PINK1 Loss-of-Function Mutations Affect Mitochondrial Complex I Activity via NdufA10 Ubiquinone Uncoupling

P. Verstreken, B. de Strooper, K. Gevaert, 2014, Science.

Phosphatase and Tensin Homolog (PTEN)-induced Putative Kinase 1 (PINK1)-dependent Ubiquitination of Endogenous Parkin Attenuates Mitophagy

D. Krainc, C. Klein, J. Hagenah, 2012, The Journal of Biological Chemistry.

Mitochondrial Parkin Recruitment Is Impaired in Neurons Derived from Mutant PINK1 Induced Pluripotent Stem Cells

D. Krainc, C. Klein, P. Seibler, 2011, The Journal of Neuroscience.

Effect of endogenous mutant and wild-type PINK1 on Parkin in fibroblasts from Parkinson disease patients.

K. Lohmann, A. Ramírez, C. Klein, 2010, Human molecular genetics.

Parkinson's Disease Phenotypes in Patient Neuronal Cultures and Brain Organoids Improved by 2‐Hydroxypropyl‐β‐Cyclodextrin Treatment

Anna S. Monzel, R. Krüger, J. Modamio, 2021, Movement disorders : official journal of the Movement Disorder Society.

Parkinson’s disease phenotypes in patient specific brain organoids are improved by HP-β-CD treatment

Anna S. Monzel, R. Krüger, C. Klein, 2019, bioRxiv.

Parkin Deficiency Appears Not to Be Associated with Cardiac Damage in Parkinson's Disease

I. König, N. Brüggemann, K. Lohmann, 2021, Movement disorders : official journal of the Movement Disorder Society.

ER Lipid Defects in Neuropeptidergic Neurons Impair Sleep Patterns in Parkinson’s Disease

P. Verstreken, G. Esposito, K. Miśkiewicz, 2018, Neuron.

SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction in Parkin-deficient human iPSC-derived neurons and Drosophila.

R. Bodmer, A. Hicks, P. Pramstaller, 2017, Human molecular genetics.

A Mendelian randomization study investigating the causal role of inflammation on Parkinson’s disease

I. König, L. Foco, C. Klein, 2022, Brain : a journal of neurology.

Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson’s disease patients carrying the heterozygous mutations c.1290A > G (p.T351A) or c.2067A > G (p.T610A) in the RHOT1 gene encoding Miro1

R. Krüger, C. Saraiva, J. Schwamborn, 2023, Stem cell research.

Variants in Miro1 Cause Alterations of ER-Mitochondria Contact Sites in Fibroblasts from Parkinson’s Disease Patients

R. Krüger, E. Glaab, J. Trinh, 2019, Journal of clinical medicine.

Induced pluripotent stem cells for modeling of X-linked dystonia-parkinsonism

C. Klein, A. Rakovic, P. Seibler, 2021 .

Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants

K. Lohmann, C. Sue, C. Klein, 2018, Human mutation.

Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation

M. Endres, K. Lohmann, A. Ramírez, 2013, Journal of Neurology.

ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome

A. Ramírez, C. Sue, A. Münchau, 2012, Neurobiology of Aging.

Unraveling Cellular Phenotypes of Novel TorsinA/TOR1A Mutations

A. Ferbert, K. Lohmann, A. Rolfs, 2014, Human mutation.

Excess Lipin enzyme activity contributes to TOR1A recessive disease and DYT-TOR1A dystonia.

A. Pisani, P. Verstreken, C. Klein, 2020, Brain : a journal of neurology.

Inhibition of Lipin lipid phosphatase hyperactivity rescues TorsinA neurological disease

A. Pisani, P. Verstreken, C. Klein, 2019, bioRxiv.

Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks

M. Frech, A. Rolfs, C. Klein, 2013, Orphanet Journal of Rare Diseases.

Cardiolipin promotes electron transport between ubiquinone and complex I to rescue PINK1 deficiency

P. Verstreken, B. de Strooper, K. Craessaerts, 2017, The Journal of cell biology.

Characterization of the pathogenic α-Synuclein Variant V15A in Parkinson´s disease

K. Lohmann, M. Borsche, Marija Dulovic-Mahlow, 2023, NPJ Parkinson's disease.

Reduced Expression of GABAA Receptor Alpha2 Subunit Is Associated With Disinhibition of DYT-THAP1 Dystonia Patient-Derived Striatal Medium Spiny Neurons

K. Lohmann, F. Wegner, P. Seibler, 2021, Frontiers in Cell and Developmental Biology.

Functional and Molecular Properties of DYT-SGCE Myoclonus-Dystonia Patient-Derived Striatal Medium Spiny Neurons

F. Wegner, P. Seibler, A. Grünewald, 2021, International journal of molecular sciences.

Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism

G. Deuschl, A. Schnitzler, J. Volkmann, 2008, Neurology.

Ventral Telencephalic Patterning Protocols for Induced Pluripotent Stem Cells

F. Wegner, P. Seibler, M. Naujock, 2021, Frontiers in Cell and Developmental Biology.

Genome editing in induced pluripotent stem cells rescues TAF1 levels in X‐linked dystonia‐parkinsonism

I. König, N. Brüggemann, A. Rolfs, 2018, Movement disorders : official journal of the Movement Disorder Society.

α-Synuclein Pathology in PRKN-Linked Parkinson's Disease: New Insights from a Blood-Based Seed Amplification Assay.

K. Lohmann, A. Rakovic, M. Borsche, 2024, Annals of Neurology.

Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia

K. Lohmann, C. Klein, D. Blake, 2017, Scientific Reports.

iPS models of Parkin and PINK1.

C. Klein, A. Rakovic, P. Seibler, 2015, Biochemical Society transactions.

Linking Penetrance and Transcription in DYT‐THAP1: Insights From a Human iPSC‐Derived Cortical Model

H. Busch, K. Lohmann, V. Kostic, 2021, Movement disorders : official journal of the Movement Disorder Society.

An in vitro bioengineered model of the human arterial neurovascular unit to study neurodegenerative diseases

B. MacVicar, C. Wellington, Nicholas L. Weilinger, 2020, Molecular neurodegeneration.

Retromer-dependent neurotransmitter receptor trafficking to synapses is altered by the Parkinson's disease VPS35 mutation p.D620N.

M. Farrer, C. Klein, A. Milnerwood, 2015, Human molecular genetics.

Parkin Deficiency Impairs Mitochondrial DNA Dynamics and Propagates Inflammation

M. Spielmann, K. Wasner, N. Hattori, 2022, Movement disorders : official journal of the Movement Disorder Society.

Transcriptional Alterations in X-Linked Dystonia–Parkinsonism Caused by the SVA Retrotransposon

M. Spielmann, N. Brüggemann, M. Glatzel, 2022, International journal of molecular sciences.

Altered glutamate response and calcium dynamics in iPSC-derived striatal neurons from XDP patients

N. Brüggemann, C. Klein, F. Wegner, 2018, Experimental Neurology.