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Items: 1 to 20 of 36

1.

Amino acid substitution equivalent to human chorea-acanthocytosis I2771R in yeast Vps13 protein affects its binding to phosphatidylinositol 3-phosphate.

Rzepnikowska W, Flis K, Kaminska J, Grynberg M, Urbanek A, Ayscough KR, Zoladek T.

Hum Mol Genet. 2017 Apr 15;26(8):1497-1510. doi: 10.1093/hmg/ddx054.

2.

Chorein Sensitive Orai1 Expression and Store Operated Ca2+ Entry in Rhabdomyosarcoma Cells.

Yu W, Honisch S, Schmidt S, Yan J, Schmid E, Alkahtani S, AlKahtane AA, Alarifi S, Stournaras C, Lang F.

Cell Physiol Biochem. 2016;40(5):1141-1152. Epub 2016 Dec 14.

3.

ChaC2, an Enzyme for Slow Turnover of Cytosolic Glutathione.

Kaur A, Gautam R, Srivastava R, Chandel A, Kumar A, Karthikeyan S, Bachhawat AK.

J Biol Chem. 2017 Jan 13;292(2):638-651. doi: 10.1074/jbc.M116.727479. Epub 2016 Dec 2.

PMID:
27913623
5.

Clinical variability of neuroacanthocytosis syndromes-a series of six patients with long follow-up.

Dulski J, Sołtan W, Schinwelski M, Rudzińska M, Wójcik-Pędziwiatr M, Wictor L, Schön F, Puschmann A, Klempíř J, Tilley L, Roth J, Tacik P, Fujioka S, Drozdowski W, Sitek EJ, Wszolek Z, Sławek J.

Clin Neurol Neurosurg. 2016 Aug;147:78-83. doi: 10.1016/j.clineuro.2016.05.028. Epub 2016 Jun 1.

PMID:
27310290
6.

Phenotypic abnormalities in a chorea-acanthocytosis mouse model are modulated by strain background.

Sakimoto H, Nakamura M, Nagata O, Yokoyama I, Sano A.

Biochem Biophys Res Commun. 2016 Mar 25;472(1):118-24. doi: 10.1016/j.bbrc.2016.02.077. Epub 2016 Feb 24.

PMID:
26921443
7.

Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.

Benninger F, Afawi Z, Korczyn AD, Oliver KL, Pendziwiat M, Nakamura M, Sano A, Helbig I, Berkovic SF, Blatt I.

Epilepsia. 2016 Apr;57(4):549-56. doi: 10.1111/epi.13318. Epub 2016 Jan 27.

8.

Teaching Video NeuroImages: Feeding dystonia in chorea-acanthocytosis.

Paucar M, Lindestad PÅ, Walker RH, Svenningsson P.

Neurology. 2015 Nov 10;85(19):e143-4. doi: 10.1212/WNL.0000000000002108. No abstract available.

9.

FDG PET brain scan demonstrated glucose hypometabolism of bilateral caudate nuclei and putamina in a patient with chorea-acanthocytosis.

Cui R, You H, Niu N, Li F.

Clin Nucl Med. 2015 Dec;40(12):979-80. doi: 10.1097/RLU.0000000000000968.

PMID:
26359566
10.

Chorein Sensitive Arrangement of Cytoskeletal Architecture.

Honisch S, Gu S, Vom Hagen JM, Alkahtani S, Al Kahtane AA, Tsapara A, Hermann A, Storch A, Schöls L, Lang F, Stournaras C.

Cell Physiol Biochem. 2015;37(1):399-408. doi: 10.1159/000430363. Epub 2015 Aug 27.

11.

Maya paleodemographics: what do we know?

Olga Hernández Espinoza P, Márquez Morfín L.

Am J Hum Biol. 2015 Nov-Dec;27(6):747-57. doi: 10.1002/ajhb.22751. Epub 2015 Jun 19. Review.

PMID:
26089156
12.

TipC and the chorea-acanthocytosis protein VPS13A regulate autophagy in Dictyostelium and human HeLa cells.

Muñoz-Braceras S, Calvo R, Escalante R.

Autophagy. 2015;11(6):918-27. doi: 10.1080/15548627.2015.1034413.

13.

Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic.

Schiessl-Weyer J, Roa P, Laccone F, Kluge B, Tichy A, De Almeida Ribeiro E, Prohaska R, Stoeter P, Siegl C, Salzer U.

PLoS One. 2015 Apr 27;10(4):e0125861. doi: 10.1371/journal.pone.0125861. eCollection 2015.

14.

A conserved function in phosphatidylinositol metabolism for mammalian Vps13 family proteins.

Park JS, Halegoua S, Kishida S, Neiman AM.

PLoS One. 2015 Apr 27;10(4):e0124836. doi: 10.1371/journal.pone.0124836. eCollection 2015.

15.

Chorein addiction in VPS13A overexpressing rhabdomyosarcoma cells.

Honisch S, Yu W, Liu G, Alesutan I, Towhid ST, Tsapara A, Schleicher S, Handgretinger R, Stournaras C, Lang F.

Oncotarget. 2015 Apr 30;6(12):10309-19.

16.

Quetiapine treatment for self-mutilation in chorea-acanthocytosis: a case report.

Ak S, Gürel ŞC, Baş DF, Yağcioğlu AE.

J Clin Psychopharmacol. 2015 Apr;35(2):208-9. doi: 10.1097/JCP.0000000000000274. No abstract available.

PMID:
25634159
17.

Facial cellulitis revealing choreo-acanthocytosis: a case report.

Samia Y, Yosra C, Foued B, Mouna A, Olfa B, Jihed S, Hammadi B, Mahbouba FA, Amel L, Habib SM.

Pan Afr Med J. 2014 Apr 28;17:322. doi: 10.11604/pamj.2014.17.322.4085. eCollection 2014.

18.

Activation of the proapoptotic unfolded protein response in plaques of the human carotid artery.

Dorweiler B, Grechowa I, Wallrath A, Vahl CF, Horke S.

Eur J Vasc Endovasc Surg. 2014 Sep;48(3):248-57. doi: 10.1016/j.ejvs.2014.06.038. Epub 2014 Jul 22.

19.

Chorea-acanthocytosis presenting as dystonia.

Kobal J, Dobson-Stone C, Danek A, Fidler V, Zvan B, Zaletel M.

Acta Clin Croat. 2014 Mar;53(1):107-12.

PMID:
24974674
20.

Cognitive impairment in "Other" movement disorders: hidden defects and valuable clues.

Walterfang M, van de Warrenburg BP.

Mov Disord. 2014 Apr 15;29(5):694-703. doi: 10.1002/mds.25849. Review.

PMID:
24757117

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