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Select item 82769561.

Spastic Paraplegia-56 due to a Novel CYP2U1 Truncating Mutation in an Indian Boy: A New Report and Literature Review

Indar K. Sharawat, Prateek Kumar Panda, Lesa Dawman

J Pediatr Neurosci. 2021 Jan-Mar; 16(1): 71–74. Published online 2021 Jun 25. doi: 10.4103/jpn.JPN_86_20

PMCID:: PMC8276956

Abstract Article

Select item 63354192.

Anti-breast Cancer Activity of SPG-56 from Sweet Potato in MCF-7 Bearing Mice in Situ through Promoting Apoptosis and Inhibiting Metastasis

Zhaoxing Li, Yang Yu, Meimei Wang, Heshan Xu, Bing Han, Pu Jiang, Hang Ma, Yuanfeng Li, Cheng Tian, Deqi Zhou, Xuegang Li, Xiaoli Ye

Sci Rep. 2019; 9: 146. Published online 2019 Jan 16. doi: 10.1038/s41598-018-29099-x

PMCID:: PMC6335419

Abstract Article PDF–7.2M

Select item 86189893.

Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography

Khaled El Matri, Yousra Falfoul, Imen Habibi, Ahmed Chebil, Daniel Schorderet, Leila El Matri

Genes (Basel) 2021 Nov; 12(11): 1795. Published online 2021 Nov 15. doi: 10.3390/genes12111795

PMCID:: PMC8618989

Abstract Article PDF–12M

Select item 58395544.

ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

Celeste Montecchiani, Lucia Pedace, Temistocle Lo Giudice, Antonella Casella, Marzia Mearini, Fabrizio Gaudiello, José L. Pedroso, Chiara Terracciano, Carlo Caltagirone, Roberto Massa, Peter H. St George-Hyslop, Orlando G. P. Barsottini, Toshitaka Kawarai, Antonio Orlacchio

Brain. 2016 Jan; 139(1): 73–85. Published online 2015 Nov 10. doi: 10.1093/brain/awv320

PMCID:: PMC5839554

Abstract Article PDF–1.4M

Select item 50618465.

Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing

Kishore R Kumar, G.M. Wali, Mahesh Kamate, Gautam Wali, André E Minoche, Clare Puttick, Mark Pinese, Velimir Gayevskiy, Marcel E Dinger, Tony Roscioli, Carolyn M. Sue, Mark J Cowley

Neurogenetics. 2016; 17(4): 265–270. Published online 2016 Sep 28. doi: 10.1007/s10048-016-0495-z

PMCID:: PMC5061846

Abstract Article PDF–1.7M

Select item 50114586.

CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia

A. Kariminejad, L. Schöls, R. Schüle, S.H. Tonekaboni, A. Abolhassani, M. Fadaee, R.O. Rosti, J.G. Gleeson

Eur J Paediatr Neurol. Author manuscript; available in PMC 2016 Sep 6.

Published in final edited form as: Eur J Paediatr Neurol. 2016 Sep; 20(5): 782–787. Published online 2016 Jun 2. doi: 10.1016/j.ejpn.2016.05.013

PMCID:: PMC5011458

Abstract Article PDF–156K

Select item 40454997.

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

Abstract Article PDF–458K

Select item 106964138.

CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers

Sheila Suet-Na Wong, Liz Yuet-Ping Yuen, Elaine Kan, Nenad Blau, Richard Rodenburg, Ching-wan Lam, Virginia Chun-Nei Wong, Fanny Mochel, Ron A. Wevers, Cheuk-Wing Fung

Mol Genet Metab Rep. 2024 Mar; 38: 101023. Published online 2023 Nov 21. doi: 10.1016/j.ymgmr.2023.101023

PMCID:: PMC10696413

Abstract Article PDF–579K

Select item 99848719.

Co-occurrence of CLCN2-related leukoencephalopathy and SPG56

Wejdan Almasoudi, Christer Nilsson, Ulrika Kjellström, Kevin Sandeman, Andreas Puschmann

Clin Park Relat Disord. 2023; 8: 100189. Published online 2023 Feb 22. doi: 10.1016/j.prdoa.2023.100189

PMCID:: PMC9984871

Abstract Article PDF–2.0M

Select item 1110776210.

Cytochrome P450 2U1, a very peculiar member of the human P450s family

L. Dhers, L. Ducassou, J.-L. Boucher, D. Mansuy

Cell Mol Life Sci. 2017 May; 74(10): 1859–1869. Published online 2017 Jan 12. doi: 10.1007/s00018-016-2443-3

PMCID:: PMC11107762

Abstract Article PDF–1.5M

Select item 1106228911.

ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency

Carlos R. Ferreira, Thomas O. Carpenter, Demetrios T. Braddock

Annu Rev Pathol. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Annu Rev Pathol. 2024 Jan 24; 19: 507–540. Published online 2023 Oct 23. doi: 10.1146/annurev-pathmechdis-051222-121126

PMCID:: PMC11062289

Abstract Article PDF–1.8M

Select item 1104483912.

Histological Findings in the Eyes of Abcc6 Knockout Rat Model of Pseudoxanthoma Elasticum

Anahita Sehgal, Tatyana Milman, Qiaoli Li, Jose S. Pulido

Transl Vis Sci Technol. 2024 Apr; 13(4): 29. Published online 2024 Apr 24. doi: 10.1167/tvst.13.4.29

PMCID:: PMC11044839

Abstract Article PDF–4.0M

Select item 1050301113.

Drosophila Atlastin regulates synaptic vesicle mobilization independent of bone morphogenetic protein signaling

Francisca Bertin, Jorge Jara-Wilde, Benedikt Auer, Andrés Köhler-Solís, Carolina González-Silva, Ulrich Thomas, Jimena Sierralta

Biol Res. 2023; 56: 49. Published online 2023 Sep 14. doi: 10.1186/s40659-023-00462-1

PMCID:: PMC10503011

Abstract Article PDF–11M

Select item 1036602914.

Correlation of systemic involvement and presence of pathological skin calcification assessed by ex vivo nonlinear microscopy in Pseudoxanthoma elasticum

Luca Fésűs, Norbert Kiss, Klára Farkas, Dóra Plázár, Sára Pálla, Nastassia Navasiolava, Lili Róbert, Norbert M. Wikonkál, Ludovic Martin, Márta Medvecz

Arch Dermatol Res. 2023; 315(7): 1897–1908. Published online 2023 Feb 27. doi: 10.1007/s00403-023-02557-x

PMCID:: PMC10366029

Abstract Article PDF–1.9M

Select item 1013568915.

Matrix Metalloproteinases Contribute to the Calcification Phenotype in Pseudoxanthoma Elasticum

Ricarda Plümers, Christopher Lindenkamp, Michel Robin Osterhage, Cornelius Knabbe, Doris Hendig

Biomolecules. 2023 Apr; 13(4): 672. Published online 2023 Apr 12. doi: 10.3390/biom13040672

PMCID:: PMC10135689

Abstract Article PDF–8.2M

Select item 977213716.

The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals

Flora Szeri, Agnes Miko, Nastassia Navasiolava, Ambrus Kaposi, Shana Verschuere, Beatrix Molnar, Qiaoli Li, Sharon F. Terry, Federica Boraldi, Jouni Uitto, Koen van de Wetering, Ludovic Martin, Daniela Quaglino, Olivier M. Vanakker, Kalman Tory, Tamas Aranyi

Hum Mutat. 2022 Dec; 43(12): 1872–1881. Published online 2022 Nov 15. doi: 10.1002/humu.24498