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Select item 46844041.

Delayed Induction of Human NTE (PNPLA6) Rescues Neurodegeneration and Mobility Defects of Drosophila swiss cheese (sws) Mutants

Alyson Sujkowski, Shirley Rainier, John K. Fink, Robert J. Wessells

PLoS One. 2015; 10(12): e0145356. Published online 2015 Dec 15. doi: 10.1371/journal.pone.0145356

PMCID:: PMC4684404

Article PDF–3.1M

Select item 43104592.

Constructs of human neuropathy target esterase catalytic domain containing mutations related to motor neuron disease have altered enzymatic properties

Nichole D. Hein, Jeanne A. Stuckey, Shirley R. Rainier, John K. Fink, Rudy J. Richardson.

Toxicol Lett. Author manuscript; available in PMC 2015 Jan 29.

Published in final edited form as: Toxicol Lett. 2010 Jul 1; 196(2): 67–73. Published online 2010 Apr 9. doi: 10.1016/j.toxlet.2010.03.1120

PMCID:: PMC4310459

Article PDF–783K

Select item 43104563.

Motor neuron disease due to neuropathy target esterase mutation: enzyme analysis of fibroblasts from human subjects yields insights into pathogenesis

Nichole D. Hein, Shirley R. Rainier, Rudy J. Richardson, John K. Fink

Toxicol Lett. Author manuscript; available in PMC 2015 Jan 29.

Published in final edited form as: Toxicol Lett. 2010 Nov 10; 199(1): 1–5. Published online 2010 Sep 17. doi: 10.1016/j.toxlet.2010.06.020

PMCID:: PMC4310456

Article PDF–477K

Select item 40454994.

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

John K. Fink

Acta Neuropathol. Author manuscript; available in PMC 2014 Jun 4.

Published in final edited form as: Acta Neuropathol. 2013 Sep; 126(3): 307–328. Published online 2013 Jul 30. doi: 10.1007/s00401-013-1115-8

PMCID:: PMC4045499

Article PDF–458K

Select item 35970225.

Knockdown of Pnpla6 protein results in motor neuron defects in zebrafish

Yang Song, Molin Wang, Fei Mao, Ming Shao, Baochang Zhao, Zhen Song, Changshun Shao, Yaoqin Gong

Dis Model Mech. 2013 Mar; 6(2): 404–413. Published online 2012 Sep 20. doi: 10.1242/dmm.009688

PMCID:: PMC3597022

Article

Select item 27231656.

Swiss Cheese, a Protein Involved in Progressive Neurodegeneration, Acts as a Noncanonical Regulatory Subunit for PKA-C3

Alexandre Bettencourt da Cruz, Jill Wentzell, Doris Kretzschmar

J Neurosci. 2008 Oct 22; 28(43): 10885–10892. doi: 10.1523/JNEUROSCI.3015-08.2008

PMCID:: PMC2723165

Article PDF–643K

Select item 108911947.

Surgical treatment options for spasticity in children and adolescents with hereditary spastic paraplegia

Laura A. van de Pol, Nina Burgert, Petra E. M. van Schie, K. Mariam Slot, Alida A. Gouw, Annemieke I. Buizer

Childs Nerv Syst. 2024; 40(3): 855–861. Published online 2023 Oct 3. doi: 10.1007/s00381-023-06159-w

PMCID:: PMC10891194

Article PDF–511K

Select item 96185468.

Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39

Sebastian Viertauer, Ingo Kurth, Katja Eggermann, Christian Eggers

J Neurol. 2022; 269(12): 6476–6482. Published online 2022 Aug 10. doi: 10.1007/s00415-022-11313-6

PMCID:: PMC9618546

Article PDF–827K

Select item 83471969.

Loss of swiss cheese in Neurons Contributes to Neurodegeneration with Mitochondria Abnormalities, Reactive Oxygen Species Acceleration and Accumulation of Lipid Droplets in Drosophila Brain

Pavel A. Melentev, Elena V. Ryabova, Nina V. Surina, Darya R. Zhmujdina, Artem E. Komissarov, Ekaterina A. Ivanova, Natalia P. Boltneva, Galina F. Makhaeva, Mariana I. Sliusarenko, Andriy S. Yatsenko, Iryna I. Mohylyak, Nataliya P. Matiytsiv, Halyna R. Shcherbata, Svetlana V. Sarantseva

Int J Mol Sci. 2021 Aug; 22(15): 8275. Published online 2021 Jul 31. doi: 10.3390/ijms22158275

PMCID:: PMC8347196

Article PDF–8.5M

Select item 810800810.

Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes

Robert B Hufnagel, Gavin Arno, Nichole D Hein, Joshua Hersheson, Megana Prasad, Yvonne Anderson, Laura A Krueger, Louise C Gregory, Corinne Stoetzel, Thomas J Jaworek, Sarah Hull, Abi Li, Vincent Plagnol, Christi M Willen, Thomas M Morgan, Cynthia A Prows, Rashmi S Hegde, Saima Riazuddin, Gregory A Grabowski, Rudy J Richardson, Klaus Dieterich, Taosheng Huang, Tamas Revesz, J P Martinez-Barbera, Robert A Sisk, Craig Jefferies, Henry Houlden, Mehul T Dattani, John K Fink, Helene Dollfus, Anthony T Moore, Zubair M Ahmed

J Med Genet. Author manuscript; available in PMC 2021 May 10.

Published in final edited form as: J Med Genet. 2015 Feb; 52(2): 85–94. Published online 2014 Dec 5. doi: 10.1136/jmedgenet-2014-102856

PMCID:: PMC8108008

Article PDF–1.7M

Select item 670817911.

Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia

Giorgia Olivieri, Stefano Pro, Daria Diodato, Matteo Di Capua, Daniela Longo, Diego Martinelli, Enrico Bertini, Carlo Dionisi-Vici

Orphanet J Rare Dis. 2019; 14: 208. Published online 2019 Aug 23. doi: 10.1186/s13023-019-1181-7

PMCID:: PMC6708179

Article PDF–1017K

Select item 669034312.

ER responses play a key role in Swiss-Cheese/Neuropathy Target Esterase-associated neurodegeneration

Elizabeth R. Sunderhaus, Alexander D Law, Doris Kretzschmar

Neurobiol Dis. Author manuscript; available in PMC 2020 Oct 1.

Published in final edited form as: Neurobiol Dis. 2019 Oct; 130: 104520. Published online 2019 Jun 22. doi: 10.1016/j.nbd.2019.104520

PMCID:: PMC6690343

Article PDF–2.5M

Select item 628791413.

Overcoming the Divide Between Ataxias and Spastic Paraplegias: Shared Phenotypes, Genes, and Pathways

Matthis Synofzik, Rebecca Schüle

Mov Disord. Author manuscript; available in PMC 2018 Dec 10.

Published in final edited form as: Mov Disord. 2017 Mar; 32(3): 332–345. Published online 2017 Feb 14. doi: 10.1002/mds.26944

PMCID:: PMC6287914

Article PDF–601K

Select item 623719714.

The spastic paraplegia-associated phospholipase DDHD1 is a primary brain phosphatidylinositol lipase

Jordon M. Inloes, Hui Jing, Benjamin F. Cravatt

Biochemistry. Author manuscript; available in PMC 2019 Oct 2.

Published in final edited form as: Biochemistry. 2018 Oct 2; 57(39): 5759–5767. Published online 2018 Sep 17. doi: 10.1021/acs.biochem.8b00810

PMCID:: PMC6237197

Article PDF–1.1M

Select item 610537915.

Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects

Eunju Seong, Ryan Insolera, Marija Dulovic, Erik-Jan Kamsteeg, Joanne Trinh, Norbert Brüggemann, Erin Sandford, Sheng Li, Ayse Bilge Ozel, Jun Z. Li, Tamison Jewett, Anneke J.A. Kievit, Alexander Münchau, Vikram Shakkottai, Christine Klein, Catherine Collins, Katja Lohmann, Bart P. van de Warrenburg, Margit Burmeister

Ann Neurol. Author manuscript; available in PMC 2019 Jun 30.

Published in final edited form as: Ann Neurol. 2018 Jun; 83(6): 1075–1088. Published online 2018 Jun 30. doi: 10.1002/ana.25220

PMCID:: PMC6105379

Article PDF–1.5M

Select item 597002716.

Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias

Hélio Afonso Ghizoni Teive, Carlos Henrique F. Camargo, Mario Teruo Sato, Naoye Shiokawa, Cesar L. Boguszewski, Salmo Raskin, Cassandra Buck, Stephanie B. Seminara, Renato Puppi Munhoz

Cerebellum. Author manuscript; available in PMC 2018 Jun 1.

Published in final edited form as: Cerebellum. 2018 Jun; 17(3): 380–385. doi: 10.1007/s12311-017-0909-y

PMCID:: PMC5970027

Article PDF–373K

Select item 538408817.

Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation

Hiroshi Doi, Masao Ushiyama, Takashi Baba, Katsuko Tani, Masaaki Shiina, Kazuhiro Ogata, Satoko Miyatake, Yoko Fukuda-Yuzawa, Shoji Tsuji, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Shu-ichi Ikeda, Fumiaki Tanaka, Naomichi Matsumoto, Kunihiro Yoshida

Sci Rep. 2014; 4: 7132. Published online 2014 Nov 24. doi: 10.1038/srep07132

PMCID:: PMC5384088

Article PDF–733K

Select item 535717618.

NTE/PNPLA6 is expressed in mature Schwann cells and is required for glial ensheathment of Remak fibers

Janis McFerrin, Bruce L. Patton, Elizabeth R. Sunderhaus, Doris Kretzschmar

Glia. Author manuscript; available in PMC 2018 May 1.

Published in final edited form as: Glia. 2017 May; 65(5): 804–816. Published online 2017 Feb 16. doi: 10.1002/glia.23127

PMCID:: PMC5357176

Article PDF–5.1M

Select item 524390319.

Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene

Sarah Wiethoff, Conceição Bettencourt, Reema Paudel, Prochi Madon, Yo-Tsen Liu, Joshua Hersheson, Noshir Wadia, Joy Desai, Henry Houlden

Cerebellum. 2017; 16(1): 262–267. Published online 2016 Mar 19. doi: 10.1007/s12311-016-0769-x

PMCID:: PMC5243903

Article PDF–960K

Select item 493969520.

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

Eleanna Kara, Arianna Tucci, Claudia Manzoni, David S. Lynch, Marilena Elpidorou, Conceicao Bettencourt, Viorica Chelban, Andreea Manole, Sherifa A. Hamed, Nourelhoda A. Haridy, Monica Federoff, Elisavet Preza, Deborah Hughes, Alan Pittman, Zane Jaunmuktane, Sebastian Brandner, Georgia Xiromerisiou, Sarah Wiethoff, Lucia Schottlaender, Christos Proukakis, Huw Morris, Tom Warner, Kailash P. Bhatia, L.V. Prasad Korlipara, Andrew B. Singleton, John Hardy, Nicholas W. Wood, Patrick A. Lewis, Henry Houlden

Brain. 2016 Jul; 139(7): 1904–1918. Published online 2016 May 23. doi: 10.1093/brain/aww111

PMCID:: PMC4939695

Article PDF–1.8M

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