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Items: 17

1.
Comment on “A New Allelic Variant in the PANK2 Gene in a Patient with Incomplete HARP Syndrome”
Ruth Helen Walker, Robert Alexander Hegele, Adrian Danek
J Mov Disord. 2021 Sep; 14(3): 254–255. Published online 2021 Apr 6. doi: 10.14802/jmd.20145
PMCID:
PMC8490183
ArticlePDF–103K
2.
Acanthocyte Sedimentation Rate as a Diagnostic Biomarker for Neuroacanthocytosis Syndromes: Experimental Evidence and Physical Justification
Alexis Darras, Kevin Peikert, Antonia Rabe, François Yaya, Greta Simionato, Thomas John, Anil Kumar Dasanna, Semen Buvalyy, Jürgen Geisel, Andreas Hermann, Dmitry A. Fedosov, Adrian Danek, Christian Wagner, Lars Kaestner
Cells. 2021 Apr; 10(4): 788. Published online 2021 Apr 2. doi: 10.3390/cells10040788
PMCID:
PMC8067274
AbstractArticlePDF–35M
3.
XK is a partner for VPS13A: a molecular link between Chorea-Acanthocytosis and McLeod Syndrome
Jae-Sook Park, Aaron M. Neiman
Mol Biol Cell. 2020 Oct 15; 31(22): 2425–2436. doi: 10.1091/mbc.E19-08-0439-T
PMCID:
PMC7851852
AbstractArticlePDF–2.4M
4.
“Neuroacanthocytosis” – Overdue for a Taxonomic Update
Ruth H. Walker, Adrian Danek
Tremor Other Hyperkinet Mov (N Y) 2021; 11: 1. Published online 2021 Jan 11. doi: 10.5334/tohm.583
PMCID:
PMC7805383
AbstractArticlePDF–421K
5.
Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein
Yuka Urata, Masayuki Nakamura, Natsuki Sasaki, Nari Shiokawa, Yoshiaki Nishida, Kaoru Arai, Hanae Hiwatashi, Izumi Yokoyama, Shinsuke Narumi, Yasuo Terayama, Takenobu Murakami, Yoshikazu Ugawa, Hiroki Sakamoto, Satoshi Kaneko, Yusuke Nakazawa, Ryo Yamasaki, Shoko Sadashima, Toshiaki Sakai, Hiroaki Arai, Akira Sano
Neurol Genet. 2019 Jun; 5(3): e328. Published online 2019 Apr 22. doi: 10.1212/NXG.0000000000000328
PMCID:
PMC6481271
AbstractArticlePDF–416K
6.
Human VPS13A is associated with multiple organelles and influences mitochondrial morphology and lipid droplet motility
Wondwossen M Yeshaw, Marianne van der Zwaag, Francesco Pinto, Liza L Lahaye, Anita IE Faber, Rubén Gómez-Sánchez, Amalia M Dolga, Conor Poland, Anthony P Monaco, Sven CD van IJzendoorn, Nicola A Grzeschik, Antonio Velayos-Baeza, Ody CM Sibon
eLife. 2019; 8: e43561. Published online 2019 Feb 11. doi: 10.7554/eLife.43561
PMCID:
PMC6389287
AbstractArticlePDF–8.5M
7.
VPS13A and VPS13C are lipid transport proteins differentially localized at ER contact sites
Nikit Kumar, Marianna Leonzino, William Hancock-Cerutti, Florian A. Horenkamp, PeiQi Li, Joshua A. Lees, Heather Wheeler, Karin M. Reinisch, Pietro De Camilli
J Cell Biol. 2018 Oct 1; 217(10): 3625–3639. doi: 10.1083/jcb.201807019
PMCID:
PMC6168267
AbstractArticlePDF–2.7M
8.
Absence of Acanthocytosis in Huntington’s Disease-like 2: A Prospective Comparison with Huntington’s Disease
David G. Anderson, Sergio Carmona, Kubendran Naidoo, Theresa L. Coetzer, Jonathan Carr, Dobrila D. Rudnicki, Ruth H. Walker, Russell L. Margolis, Amanda Krause
Tremor Other Hyperkinet Mov (N Y) 2017; 7: 512. Published online 2017 Dec 5. doi: 10.7916/D81J9PDX
PMCID:
PMC5721130
AbstractArticlePDF–625K
9.
An Ultra-rare Disease? Where Do We Go from Here?
Glenn Irvine, Ginger Irvine
Tremor Other Hyperkinet Mov (N Y) 2013; 3: tre-03-179-4181-1. Published online 2013 Nov 1. doi: 10.7916/D8GB22R8
PMCID:
PMC3822404
AbstractArticlePDF–585K
10.
Ablation of the Kell/Xk complex alters erythrocyte divalent cation homeostasis
Alicia Rivera, Siok Yuen Kam, Mengfatt Ho, Jose R. Romero, Soohee Lee
Blood Cells Mol Dis. Author manuscript; available in PMC 2014 Feb 1.
Published in final edited form as: Blood Cells Mol Dis. 2013 Feb; 50(2): 80–85. Published online 2012 Oct 31. doi: 10.1016/j.bcmd.2012.10.002
PMCID:
PMC3540154
AbstractArticlePDF–746K
11.
Neuroacanthocytosis Syndromes
Hans H Jung, Adrian Danek, Ruth H Walker
Orphanet J Rare Dis. 2011; 6: 68. Published online 2011 Oct 25. doi: 10.1186/1750-1172-6-68
PMCID:
PMC3212896
AbstractArticlePDF–616K
12.
Insights into extensive deletions around the XK locus associated with McLeod phenotype and characterization of two novel cases
Jianbin Peng, Colvin Redman, Xu Wu, Xiaoling Song, Ruth H. Walker, Connie M. Westhoff, Soohee Lee
Gene. Author manuscript; available in PMC 2007 Jul 24.
Published in final edited form as: Gene. 2007 May 1; 392(1-2): 142–150. Published online 2007 Jan 11. doi: 10.1016/j.gene.2006.11.023
PMCID:
PMC1931494
AbstractArticlePDF–762K
13.
Evidence for a protective role of the Gardos channel against hemolysis in murine spherocytosis
Lucia De Franceschi, Alicia Rivera, Mark D. Fleming, Marek Honczarenko, Luanne L. Peters, Philippe Gascard, Narla Mohandas, Carlo Brugnara
Blood. 2005 Aug 15; 106(4): 1454–1459. Prepublished online 2005 Apr 26. doi: 10.1182/blood-2005-01-0368
PMCID:
PMC1895196
AbstractArticle
14.
White matter abnormalities on MRI in neuroacanthocytosis
D Nicholl, I Sutton, M Dotti, S Supple, A Danek, M Lawden
J Neurol Neurosurg Psychiatry. 2004 Aug; 75(8): 1200–1201. doi: 10.1136/jnnp.2003.026781
PMCID:
PMC1739157
SummaryPDF–109K
15.
Reduction of striatal glucose metabolism in McLeod choreoacanthocytosis
M Oechsner, R Buchert, W Beyer, A Danek
J Neurol Neurosurg Psychiatry. 2001 Apr; 70(4): 517–520. doi: 10.1136/jnnp.70.4.517
PMCID:
PMC1737311
SummaryPDF–159K
16.
Localization of the McLeod locus (XK) within Xp21 by deletion analysis.
C J Bertelson, A O Pogo, A Chaudhuri, W L Marsh, C M Redman, D Banerjee, W A Symmans, T Simon, D Frey, L M Kunkel
Am J Hum Genet. 1988 May; 42(5): 703–711.
PMCID:
PMC1715185
SummaryPage BrowsePDF–1.4M
17.
Transcriptional regulation of the KEL gene and Kell protein expression in erythroid and non-erythroid cells.
V Camara-Clayette, C Rahuel, C Lopez, C Hattab, V Verkarre, O Bertrand, J P Cartron
Biochem J. 2001 May 15; 356(Pt 1): 171–180. doi: 10.1042/0264-6021:3560171
PMCID:
PMC1221825
SummaryPDF–360K

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