PMC Articles for MedGen (Select 1814585) - PMC

Select item 103410831.

Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches

Joanne Ng, Serena Barral, Simon N. Waddington, Manju A. Kurian

Cells. 2023 Jul; 12(13): 1737. Published online 2023 Jun 28. doi: 10.3390/cells12131737

PMCID:: PMC10341083

Select item 50639882.

Pharmacological Chaperones of the Dopamine Transporter Rescue Dopamine Transporter Deficiency Syndrome Mutations in Heterologous Cells

Pieter Beerepoot, Vincent M. Lam, Ali Salahpour

J Biol Chem. 2016 Oct 14; 291(42): 22053–22062. Published online 2016 Aug 23. doi: 10.1074/jbc.M116.749119

PMCID:: PMC5063988

Abstract Article PDF–2.3M

Select item 39595573.

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

Joanne Ng, Juan Zhen, Esther Meyer, Kevin Erreger, Yan Li, Naseebullah Kakar, Jamil Ahmad, Holger Thiele, Christian Kubisch, Nicholas L. Rider, D. Holmes Morton, Kevin A. Strauss, Erik G. Puffenberger, Daniela D’Agnano, Yair Anikster, Claudia Carducci, Keith Hyland, Michael Rotstein, Vincenzo Leuzzi, Guntram Borck, Maarten E. A. Reith, Manju A. Kurian

Brain. 2014 Apr; 137(4): 1107–1119. Published online 2014 Mar 10. doi: 10.1093/brain/awu022

PMCID:: PMC3959557

Abstract Article PDF–693K

Select item 30024014.

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

Manju A Kurian, Yan Li, Juan Zhen, Esther Meyer, Nebula Hai, Hans-Jürgen Christen, Georg F Hoffmann, Philip Jardine, Arpad von Moers, Santosh R Mordekar, Finbar O'Callaghan, Evangeline Wassmer, Elizabeth Wraige, Christa Dietrich, Timothy Lewis, Keith Hyland, Simon JR Heales, Terence Sanger, Paul Gissen, Birgit E Assmann, Maarten EA Reith, Eamonn R Maher

Lancet Neurol. 2010 Nov 26; 10(1): 54–62. doi: 10.1016/S1474-4422(10)70269-6

PMCID:: PMC3002401

Abstract Article

Select item 109469975.

Gene Therapy for Dopamine Dyshomeostasis: From Parkinson's to Primary Neurotransmitter Diseases

Joanne Ng, Serena Barral, Simon N. Waddington, Manju A. Kurian

Mov Disord. 2023 Jun; 38(6): 924–936. Published online 2023 May 5. doi: 10.1002/mds.29416

PMCID:: PMC10946997

Abstract Article PDF–830K

Select item 76122796.

Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism

Joanne Ng, Serena Barral, Carmen De La Fuente Barrigon, Gabriele Lignani, Fatma A. Erdem, Rebecca Wallings, Riccardo Privolizzi, Giada Rossignoli, Haya Alrashidi, Sonja Heasman, Esther Meyer, Adeline Ngoh, Simon Pope, Rajvinder Karda, Dany Perocheau, Julien Baruteau, Natalie Suff, Juan Antinao Diaz, Stephanie Schorge, Jane Vowles, Lucy R. Marshall, Sally A. Cowley, Sonja Sucic, Michael Freissmuth, John R. Counsell, Richard Wade-Martins, Simon J.R. Heales, Ahad A. Rahim, Maximilien Bencze, Simon N. Waddington, Manju A. Kurian

Sci Transl Med. Author manuscript; available in PMC 2022 Jan 28.

Published in final edited form as: Sci Transl Med. 2021 May 19; 13(594): eaaw1564. Published online 2021 May 19. doi: 10.1126/scitranslmed.aaw1564

PMCID:: PMC7612279

Abstract Article PDF–3.1M

Select item 91248667.

Structure-Activity Relationships of Dopamine Transporter Pharmacological Chaperones

Charles Sutton, Erin Q. Williams, Hoomam Homsi, Pieter Beerepoot, Reza Nazari, Dong Han, Amy J. Ramsey, Deborah C. Mash, David E. Olson, Bruce Blough, Ali Salahpour

Front Cell Neurosci. 2022; 16: 832536. Published online 2022 May 9. doi: 10.3389/fncel.2022.832536

PMCID:: PMC9124866

Abstract Article PDF–5.7M

Select item 63860108.

The SUMO-Conjugase Ubc9 Prevents the Degradation of the Dopamine Transporter, Enhancing Its Cell Surface Level and Dopamine Uptake

Etienne Cartier, Jennie Garcia-Olivares, Eric Janezic, Juan Viana, Michael Moore, Min Landon Lin, Jeffrey L. Caplan, Gonzalo Torres, Yong-Hwan Kim

Front Cell Neurosci. 2019; 13: 35. Published online 2019 Feb 8. doi: 10.3389/fncel.2019.00035

PMCID:: PMC6386010

Abstract Article PDF–5.1M

Select item 53946879.

Recombinant Adeno-Associated Virus-mediated rescue of function in a mouse model of Dopamine Transporter Deficiency Syndrome

P. Illiano, C.E. Bass, L. Fichera, L. Mus, E.A. Budygin, T.D. Sotnikova, D. Leo, S. Espinoza, R.R. Gainetdinov

Sci Rep. 2017; 7: 46280. Published online 2017 Apr 18. doi: 10.1038/srep46280

PMCID:: PMC5394687

Abstract Article PDF–2.5M

Select item 1009340410.

Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia

Kimberley M. Reid, Dora Steel, Sanjana Nair, Sanjay Bhate, Lorenzo Biassoni, Sniya Sudhakar, Michelle Heys, Elizabeth Burke, Erik-Jan Kamsteeg, Genomics England Research Consortium, Biju Hameed, Michael Zech, Niccolo E. Mencacci, Katy Barwick, Maya Topf, Manju A. Kurian

Cells. 2023 Apr; 12(7): 1046. Published online 2023 Mar 30. doi: 10.3390/cells12071046

PMCID:: PMC10093404

Abstract Article PDF–2.4M

Select item 980467011.

The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders

Belén Pérez‐Dueñas, Kathleen Gorman, Anna Marcé‐Grau, Juan D. Ortigoza‐Escobar, Alfons Macaya, Federica R. Danti, Katy Barwick, Apostolos Papandreou, Joanne Ng, Esther Meyer, Shekeeb S. Mohammad, Martin Smith, Francesco Muntoni, Pinki Munot, Johanna Uusimaa, Päivi Vieira, Eammon Sheridan, Renzo Guerrini, Jan Cobben, Sanem Yilmaz, Elisa De Grandis, Russell C. Dale, Roser Pons, Kathryn J. Peall, Vincenzo Leuzzi, Manju A. Kurian

Mov Disord. 2022 Nov; 37(11): 2197–2209. Published online 2022 Aug 25. doi: 10.1002/mds.29182

PMCID:: PMC9804670

Abstract Article PDF–1.5M

Select item 901662612.

Characterisation of PLA2G6 as a locus for dystonia-parkinsonism

Coro Paisan-Ruiz, Kailash P Bhatia, Abi Li, Dena Hernandez, Mary Davis, Nick W Wood, John Hardy, Henry Houlden, Andrew Singleton, Susanne A Schneider

Ann Neurol. Author manuscript; available in PMC 2022 Apr 19.

Published in final edited form as: Ann Neurol. 2009 Jan; 65(1): 19–23. doi: 10.1002/ana.21415

PMCID:: PMC9016626

Abstract Article PDF–279K

Select item 605961213.

Defective FA2H Leads to a Novel Form of Neurodegeneration with Brain Iron Accumulation (NBIA)

Michael C. Kruer, Coro Paisán-Ruiz, Nathalie Boddaert, Moon Y. Yoon, Hiroko Hama, Allison Gregory, Alessandro Malandrini, Randall L. Woltjer, Arnold Munnich, Stephanie Gobin, Brenda J. Polster, Silvia Palmeri, Simon Edvardson, John Hardy, Henry Houlden, Susan J. Hayflick

Ann Neurol. Author manuscript; available in PMC 2018 Jul 25.

Published in final edited form as: Ann Neurol. 2010 Nov; 68(5): 611–618. doi: 10.1002/ana.22122

PMCID:: PMC6059612

Abstract Article PDF–643K

Select item 813110614.

Psychomotor impairments and therapeutic implications revealed by a mutation associated with infantile Parkinsonism-Dystonia

Jenny I Aguilar, Mary Hongying Cheng, Josep Font, Alexandra C Schwartz, Kaitlyn Ledwitch, Amanda Duran, Samuel J Mabry, Andrea N Belovich, Yanqi Zhu, Angela M Carter, Lei Shi, Manju A Kurian, Cristina Fenollar-Ferrer, Jens Meiler, Renae Monique Ryan, Hassane S Mchaourab, Ivet Bahar, Heinrich JG Matthies, Aurelio Galli

eLife. 2021; 10: e68039. Published online 2021 May 18. doi: 10.7554/eLife.68039

PMCID:: PMC8131106

Abstract Article PDF–4.4M

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