000282916 001__ 282916
000282916 005__ 20251217170444.0
000282916 0247_ $$2doi$$a10.1002/mds.70029
000282916 0247_ $$2pmid$$apmid:40948186
000282916 0247_ $$2ISSN$$a0885-3185
000282916 0247_ $$2ISSN$$a1531-8257
000282916 037__ $$aDZNE-2025-01377
000282916 041__ $$aEnglish
000282916 082__ $$a610
000282916 1001_ $$0P:(DE-2719)9001931$$aHeger, Leonie$$b0$$udzne
000282916 245__ $$aPatient-Derived Neurons Exhibit α-Synuclein Pathology and Previously Unrecognized Major Histocompatibility Complex Class I Elevation in Mitochondrial Membrane Protein-Associated Neurodegeneration.
000282916 260__ $$aNew York, NY$$bWiley$$c2025
000282916 3367_ $$2DRIVER$$aarticle
000282916 3367_ $$2DataCite$$aOutput Types/Journal article
000282916 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1765977544_5351
000282916 3367_ $$2BibTeX$$aARTICLE
000282916 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000282916 3367_ $$00$$2EndNote$$aJournal Article
000282916 520__ $$aMitochondrial membrane protein-associated neurodegeneration (MPAN) from the neurodegeneration with brain iron accumulation (NBIA) family is a rare neurodegenerative disease marked by α-synuclein aggregation, brain iron accumulation, and midbrain dopaminergic neuron degeneration.The mechanisms driving neuron vulnerability remain unclear. Our study aimed to develop a patient-derived disease model replicating key pathologies of patient brains.We generated induced pluripotent stem cell-derived midbrain dopaminergic neurons from MPAN patients and examined ultrastructural and biochemical markers of pathology.MPAN patient neurons displayed α-synuclein aggregation, axonal swellings, iron accumulation, and severe membrane destruction. In addition, levels of the major histocompatibility complex class I (MHC-I), linked to cellular stress and neurodegenerative processes, were elevated in patient neurons. Treatment with acetyl-leucine, a potentially neuroprotective compound, decreased MHC-I.This first patient-derived neuronal model of MPAN provides a useful tool for further research aimed at unraveling the complexities of this disease and developing potential therapeutic interventions. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
000282916 536__ $$0G:(DE-HGF)POF4-352$$a352 - Disease Mechanisms (POF4-352)$$cPOF4-352$$fPOF IV$$x0
000282916 536__ $$0G:(DE-HGF)POF4-351$$a351 - Brain Function (POF4-351)$$cPOF4-351$$fPOF IV$$x1
000282916 588__ $$aDataset connected to CrossRef, PubMed, , Journals: pub.dzne.de
000282916 650_7 $$2Other$$aMPAN
000282916 650_7 $$2Other$$aNBIA
000282916 650_7 $$2Other$$adopaminergic neurons
000282916 650_7 $$2Other$$aiPSC disease modeling
000282916 650_7 $$2Other$$aα‐synuclein
000282916 7001_ $$aKertess, Leonie$$b1
000282916 7001_ $$0P:(DE-2719)9002163$$aKaufhold, Clara Margarete$$b2$$udzne
000282916 7001_ $$0P:(DE-2719)9002293$$aGubinelli, Francesco$$b3$$udzne
000282916 7001_ $$aCardona-Alberich, Aida$$b4
000282916 7001_ $$aÖzata, Gamze$$b5
000282916 7001_ $$0P:(DE-2719)2810938$$aMüller, Stephan A$$b6
000282916 7001_ $$0P:(DE-2719)9000794$$aTschirner, Sarah K$$b7$$udzne
000282916 7001_ $$aStehling, Oliver$$b8
000282916 7001_ $$0P:(DE-2719)2812260$$aSchifferer, Martina$$b9$$udzne
000282916 7001_ $$aPeron, Camille$$b10
000282916 7001_ $$aTiranti, Valeria$$b11
000282916 7001_ $$aLill, Roland$$b12
000282916 7001_ $$aIuso, Arcangela$$b13
000282916 7001_ $$aZecca, Luigi$$b14
000282916 7001_ $$aStrupp, Michael$$b15
000282916 7001_ $$0P:(DE-2719)9000908$$aOertel, Wolfgang$$b16
000282916 7001_ $$0P:(DE-2719)2181459$$aLichtenthaler, Stefan F$$b17$$udzne
000282916 7001_ $$0P:(DE-2719)9000040$$aBurbulla, Lena F.$$b18$$eLast author$$udzne
000282916 773__ $$0PERI:(DE-600)2041249-6$$a10.1002/mds.70029$$gVol. 40, no. 12, p. 2811 - 2818$$n12$$p2811 - 2818$$tMovement disorders$$v40$$x0885-3185$$y2025
000282916 8564_ $$uhttps://pub.dzne.de/record/282916/files/DZNE-2025-01377.pdf$$yOpenAccess
000282916 8564_ $$uhttps://pub.dzne.de/record/282916/files/DZNE-2025-01377.pdf?subformat=pdfa$$xpdfa$$yOpenAccess
000282916 9101_ $$0I:(DE-HGF)0$$6P:(DE-2719)9001931$$aExternal Institute$$b0$$kExtern
000282916 9101_ $$0I:(DE-HGF)0$$6P:(DE-2719)9002163$$aExternal Institute$$b2$$kExtern
000282916 9101_ $$0I:(DE-HGF)0$$6P:(DE-2719)9002293$$aExternal Institute$$b3$$kExtern
000282916 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2810938$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b6$$kDZNE
000282916 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)9000794$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b7$$kDZNE
000282916 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2812260$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b9$$kDZNE
000282916 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2181459$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b17$$kDZNE
000282916 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)9000040$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b18$$kDZNE
000282916 9131_ $$0G:(DE-HGF)POF4-352$$1G:(DE-HGF)POF4-350$$2G:(DE-HGF)POF4-300$$3G:(DE-HGF)POF4$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lNeurodegenerative Diseases$$vDisease Mechanisms$$x0
000282916 9131_ $$0G:(DE-HGF)POF4-351$$1G:(DE-HGF)POF4-350$$2G:(DE-HGF)POF4-300$$3G:(DE-HGF)POF4$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lNeurodegenerative Diseases$$vBrain Function$$x1
000282916 9141_ $$y2025
000282916 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS$$d2024-12-16
000282916 915__ $$0StatID:(DE-HGF)0160$$2StatID$$aDBCoverage$$bEssential Science Indicators$$d2024-12-16
000282916 915__ $$0LIC:(DE-HGF)CCBY4$$2HGFVOC$$aCreative Commons Attribution CC BY 4.0
000282916 915__ $$0StatID:(DE-HGF)0600$$2StatID$$aDBCoverage$$bEbsco Academic Search$$d2024-12-16
000282916 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bMOVEMENT DISORD : 2022$$d2024-12-16
000282916 915__ $$0StatID:(DE-HGF)3001$$2StatID$$aDEAL Wiley$$d2024-12-16$$wger
000282916 915__ $$0StatID:(DE-HGF)1030$$2StatID$$aDBCoverage$$bCurrent Contents - Life Sciences$$d2024-12-16
000282916 915__ $$0StatID:(DE-HGF)0113$$2StatID$$aWoS$$bScience Citation Index Expanded$$d2024-12-16
000282916 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection$$d2024-12-16
000282916 915__ $$0StatID:(DE-HGF)0510$$2StatID$$aOpenAccess
000282916 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bASC$$d2024-12-16
000282916 915__ $$0StatID:(DE-HGF)9905$$2StatID$$aIF >= 5$$bMOVEMENT DISORD : 2022$$d2024-12-16
000282916 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline$$d2024-12-16
000282916 915__ $$0StatID:(DE-HGF)1110$$2StatID$$aDBCoverage$$bCurrent Contents - Clinical Medicine$$d2024-12-16
000282916 915__ $$0StatID:(DE-HGF)0420$$2StatID$$aNationallizenz$$d2024-12-16$$wger
000282916 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List$$d2024-12-16
000282916 9201_ $$0I:(DE-2719)5000074$$kAG Burbulla$$lTranslational Disease Modeling$$x0
000282916 9201_ $$0I:(DE-2719)1110006$$kAG Lichtenthaler$$lNeuroproteomics$$x1
000282916 9201_ $$0I:(DE-2719)1110000-4$$kAG Misgeld$$lNeuronal Cell Biology$$x2
000282916 980__ $$ajournal
000282916 980__ $$aVDB
000282916 980__ $$aUNRESTRICTED
000282916 980__ $$aI:(DE-2719)5000074
000282916 980__ $$aI:(DE-2719)1110006
000282916 980__ $$aI:(DE-2719)1110000-4
000282916 9801_ $$aFullTexts