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Neurodegeneration with brain iron accumulation.
Hayflick SJ, Kurian MA, Hogarth P. Hayflick SJ, et al. Handb Clin Neurol. 2018;147:293-305. doi: 10.1016/B978-0-444-63233-3.00019-1. Handb Clin Neurol. 2018. PMID: 29325618 Review.
The four most common NBIA disorders include pantothenate kinase-associated neurodegeneration (PKAN) due to mutations in PANK2, phospholipase A(2)-associated neurodegeneration caused by mutation in PLA2G6, mitochondrial membrane protein-associ
The four most common NBIA disorders include pantothenate kinase-associated neurodegeneration (PKAN) due to mutations in PANK2, …
A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.
Salomão RP, Pedroso JL, Gama MT, Dutra LA, Maciel RH, Godeiro-Junior C, Chien HF, Teive HA, Cardoso F, Barsottini OG. Salomão RP, et al. Arq Neuropsiquiatr. 2016 Jul;74(7):587-96. doi: 10.1590/0004-282X20160080. Arq Neuropsiquiatr. 2016. PMID: 27487380 Free article. Review.
Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia. ...The forms of NBIA described to date include panto
Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative dis
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.
Ebrahimi-Fakhari D, Saffari A, Wahlster L, Lu J, Byrne S, Hoffmann GF, Jungbluth H, Sahin M. Ebrahimi-Fakhari D, et al. Brain. 2016 Feb;139(Pt 2):317-37. doi: 10.1093/brain/awv371. Epub 2015 Dec 29. Brain. 2016. PMID: 26715604 Free PMC article. Review.
Here we discuss 'congenital disorders of autophagy' as an emerging subclass of inborn errors of metabolism by using the examples of six recently identified monogenic diseases: EPG5-related Vici syndrome, beta-propeller protein-associated neurodegene
Here we discuss 'congenital disorders of autophagy' as an emerging subclass of inborn errors of metabolism by using the examples of six rece …
Beta-propeller protein-associated neurodegeneration (BPAN) as a genetically simple model of multifaceted neuropathology resulting from defects in autophagy.
Hor CHH, Tang BL. Hor CHH, et al. Rev Neurosci. 2019 Apr 24;30(3):261-277. doi: 10.1515/revneuro-2018-0045. Rev Neurosci. 2019. PMID: 30204590 Review.
Defects in the core and accessory components of the autophagic machinery would most severely impact terminally differentiated cells, such as neurons. The neurodevelopmental/neurodegenerative disorder beta-propeller protein-associated neurodegenerati
Defects in the core and accessory components of the autophagic machinery would most severely impact terminally differentiated cells, such as …
Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy.
Paudel R, Li A, Wiethoff S, Bandopadhyay R, Bhatia K, de Silva R, Houlden H, Holton JL. Paudel R, et al. Acta Neuropathol Commun. 2015 Jun 30;3:39. doi: 10.1186/s40478-015-0221-3. Acta Neuropathol Commun. 2015. PMID: 26123052 Free PMC article.
INTRODUCTION: Beta-propeller protein associated neurodegeneration (BPAN) is associated with mutations in the WD repeat domain 45 (WDR45) gene on chromosome Xp11 resulting in reduced autophagic flux. ...Furthermore, histological studies an …
INTRODUCTION: Beta-propeller protein associated neurodegeneration (BPAN) is associated with mutati …
Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration.
Belohlavkova A, Sterbova K, Betzler C, Burkhard S, Panzer A, Wolff M, Lassuthova P, Vlckova M, Kyncl M, Benova B, Jahodova A, Kudr M, Goerg M, Dusek P, Seeman P, Kluger G, Krsek P. Belohlavkova A, et al. Eur J Paediatr Neurol. 2020 Sep;28:81-88. doi: 10.1016/j.ejpn.2020.07.010. Epub 2020 Aug 4. Eur J Paediatr Neurol. 2020. PMID: 32811771
Beta-propeller protein-associated neurodegeneration (BPAN) represents approximately 7% of the cases, and its first signs are typically epilepsy and developmental delay. ...The diagnosis was established by targeted panel sequencing of genes as
Beta-propeller protein-associated neurodegeneration (BPAN) represents approximately 7% of the cases, and
Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know.
Ebrahimi-Fakhari D. Ebrahimi-Fakhari D. Neuropediatrics. 2018 Feb;49(1):18-25. doi: 10.1055/s-0037-1608652. Epub 2017 Nov 7. Neuropediatrics. 2018. PMID: 29112993 Review.
Over the last 5 years, several single gene disorders of the autophagy pathway have emerged: EPG5-associated Vici syndrome, WDR45-associated beta-propeller protein-associated neurodegeneration, SNX14-associated autosomal-rece …
Over the last 5 years, several single gene disorders of the autophagy pathway have emerged: EPG5-associated Vici syndrome, WDR45-a
Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells.
Seibler P, Burbulla LF, Dulovic M, Zittel S, Heine J, Schmidt T, Rudolph F, Westenberger A, Rakovic A, Münchau A, Krainc D, Klein C. Seibler P, et al. Brain. 2018 Oct 1;141(10):3052-3064. doi: 10.1093/brain/awy230. Brain. 2018. PMID: 30169597 Free PMC article.
Beta-propeller protein-associated neurodegeneration is a subtype of monogenic neurodegeneration with brain iron accumulation caused by de novo mutations in WDR45. The WDR45 protein functions as a beta-propeller scaffo
Beta-propeller protein-associated neurodegeneration is a subtype of monogenic neurodegeneration wi
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, Graf E, Sanford L, Meyer E, Kara E, Cuno SM, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Frucht S, Hanspal E, Schrander-Stumpel C, Héron D, Mignot C, Garavaglia B, Bhatia K, Hardy J, Strom TM, Boddaert N, Houlden HH, Kurian MA, Meitinger T, Prokisch H, Hayflick SJ. Haack TB, et al. Am J Hum Genet. 2012 Dec 7;91(6):1144-9. doi: 10.1016/j.ajhg.2012.10.019. Epub 2012 Nov 21. Am J Hum Genet. 2012. PMID: 23176820 Free PMC article.
We report that de novo mutations in WDR45, a gene located at Xp11.23 and encoding a beta-propeller scaffold protein with a putative role in autophagy, cause a distinctive NBIA phenotype. ...This clinically recognizable disorder is among the more common forms …
We report that de novo mutations in WDR45, a gene located at Xp11.23 and encoding a beta-propeller scaffold protein wit …
Is WDR45 the missing link for ER stress-induced autophagy in beta-propeller associated neurodegeneration?
Mollereau B, Walter L. Mollereau B, et al. Autophagy. 2019 Dec;15(12):2163-2164. doi: 10.1080/15548627.2019.1668229. Epub 2019 Sep 19. Autophagy. 2019. PMID: 31525124 Free PMC article.
Beta-propeller protein-associated neurodegeneration (BPAN) is caused by mutations in the autophagy gene WDR45/WIPI4. In human, BPAN is associated with static encephalopathy in childhood and neurodegeneration in adulthood (SENDA). .
Beta-propeller protein-associated neurodegeneration (BPAN) is caused by mutations in the autophagy gene W
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