Childhood Dystonia-Parkinsonism Following Infantile Spasms-Clinical Clue to Diagnosis in Early Beta-Propeller Protein-Associated Neurodegeneration.
Sign Up to like & getrecommendations! Published in 2019 at "Neuropediatrics"
DOI: 10.1055/s-0039-1696688
Abstract: INTRODUCTION Beta-propeller protein-associated neurodegeneration (BPAN) is a very rare, X-linked dominant (XLD) inherited member of the neurodegeneration with brain iron accumulation (NBIA) disease family. CASE REPORT We present a female case of BPAN with infantile… read more here.
Keywords: symptomatology; infantile spasms; dystonia; neurodegeneration ... See more keywords
Ferrous Iron Up-regulation in Fibroblasts of Patients with Beta Propeller Protein-Associated Neurodegeneration (BPAN)
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DOI: 10.3389/fgene.2017.00018
Abstract: Mutations in WDR45 gene, coding for a beta-propeller protein, have been found in patients affected by Neurodegeneration with Brain Iron Accumulation, NBIA5 (also known as BPAN). BPAN is a movement disorder with Non Transferrin Bound… read more here.
Keywords: propeller protein; bpan; beta propeller; iron ... See more keywords
Low Density Lipoprotein Receptor Variants in the Beta-Propeller Subdomain and Their Functional Impact
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DOI: 10.3389/fgene.2020.00691
Abstract: Background: Pathogenic variants in the low density lipoprotein receptor gene are associated with familial hypercholesterolemia. Some of these variants can result in incorrect folding of the LDLR protein, which is then accumulated inside the cell… read more here.
Keywords: protein; functional impact; density lipoprotein; low density ... See more keywords