Generation of two human iPSC lines from fibroblasts of BPAN patients carrying pathogenic variants in the WDR45 gene.

A dwdr45 knock-out drosophila model to decipher the role of autophagy in BPAN.

Early Phenotypic Features of Beta-Propeller Protein-Associated Neurodegeneration: Insights from a Korean Series.

Neurodegeneration With Brain Iron Accumulation and Ferroptosis Disorders in Children and Adults: An Imaging Review.

Autophagy and mitophagy at the synapse and beyond: implications for learning, memory and neurological disorders.

Functional ability profiles in beta-propeller protein-associated neurodegeneration (BPAN).

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series.

WDR45 deficiency shortens axon length in dopaminergic neurons from patient-derived iPSCs.

Neurodegeneration with Brain Iron Accumulation.

β-propeller protein-associated neurodegeneration protein WDR45 regulates stress granule disassembly via phase separation with Caprin-1.

Significant relief of parkinsonism and dystonia with levodopa in beta-propeller protein-associated neurodegeneration: a video case report and insights into the WDR45 c.400C>T mutation.

Mutation in Wdr45 leads to early motor dysfunction and widespread aberrant axon terminals in a beta-propeller protein associated neurodegeneration (BPAN) patient-inspired mouse model.

AAV-Mediated Gene Transfer of WDR45 Corrects Neurological Deficits in the Mouse Model of Beta-Propeller Protein-Associated Neurodegeneration.

Generation and characterization of a pluripotent stem cell line CIPi005-A derived from a female patient carrying non-canonical splice site c.827 + 1G > A in WDR45.

Biotin Induces Inactive Chromosome X Reactivation and Corrects Physiopathological Alterations in Beta-Propeller-Protein-Associated Neurodegeneration.

Deciphering the δ-Lactam Formation and lron-Reducing Activity of Spinactins from Saccharopolyspora spinosa.

WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report.

Metabolic alterations in fibroblasts of patients presenting with the MPAN subtype of neurodegeneration with brain iron accumulation (NBIA).

Asymmetrical parkinsonism due to novel WDR45 variant with beta-propeller protein-associated neurodegeneration (BPAN).

Determination of Health Concepts in β-Propeller Protein-Associated Neurodegeneration.

Metabolic impairments in neurodegeneration with brain iron accumulation.

WDR45-dependent impairment of cell cycle in fibroblasts of patients with beta propeller protein-associated neurodegeneration (BPAN).

Pathological characteristics of axons and alterations of proteomic and lipidomic profiles in midbrain dopaminergic neurodegeneration induced by WDR45-deficiency.

A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities.

Genetic Targets and Applications of Iron Chelators for Neurodegeneration with Brain Iron Accumulation.

A c.726C>G (p.Tyr242Ter) nonsense mutation-associated with splicing alteration (NASA) of WDR45 gene underlies β-propeller protein-associated neurodegeneration (BPAN).

A Case of Beta-Propeller Protein-Associated Neurodegeneration With a Unique Truncating Variant in the WDR45 Gene and Uncommon Clinical and Radiologic Findings.

L-serine restored lysosomal failure in cells derived from patients with BPAN reducing iron accumulation with eliminating lipofuscin.

Lipid droplet accumulation in Wdr45-deficient cells caused by impairment of chaperone-mediated autophagic degradation of Fasn.

Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration.

Loss of WIPI4 in neurodegeneration causes autophagy-independent ferroptosis.

Antioxidants Prevent Iron Accumulation and Lipid Peroxidation, but Do Not Correct Autophagy Dysfunction or Mitochondrial Bioenergetics in Cellular Models of BPAN.

Cardiac glycosides restore autophagy flux in an iPSC-derived neuronal model of WDR45 deficiency.

Late-Onset Beta-Propeller Protein-Associated Neurodegeneration: A Case Report.

A burning question from the first international BPAN symposium: is restoration of autophagy a promising therapeutic strategy for BPAN?

Beta-propeller protein-associated neurodegeneration: A clinical update with a case report.

Pathological characteristics of axons and proteome patterns in midbrain dopaminergic neurodegeneration induced by WDR45-deficiency.

Targeted resequencing reveals high-level mosaicism for a novel frameshift variant in WDR45 associated with beta-propeller protein-associated neurodegeneration.

WDR45 mutation dysregulates iron homeostasis by promoting the chaperone-mediated autophagic degradation of ferritin heavy chain in an ER stress/p38 dependent mechanism.

WDR45 variants cause ferrous iron loss due to impaired ferritinophagy associated with nuclear receptor coactivator 4 and WD repeat domain phosphoinositide interacting protein 4 reduction.

Time course of serum neuron-specific enolase levels from infancy to early adulthood in a female patient with beta-propeller protein-associated neurodegeneration.

Parkinsonism in Genetic Neurodevelopmental Disorders: A Systematic Review.

Generation of an induced pluripotent stem cell line FDHPIi001-A derived from a female patient with WDR45-related neurodegeneration disease carrying non-canonical splice site c.344 + 5G > T.

Early Neuroimaging Markers in β Propeller Protein-Associated Neurodegeneration.

Expanding the Spectrum of Early Neuroradiologic Findings in β Propeller Protein-Associated Neurodegeneration.

WIPI proteins: Biological functions and related syndromes.

Mutant WDR45 Leads to Altered Ferritinophagy and Ferroptosis in β-Propeller Protein-Associated Neurodegeneration.

Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN).

Cerebrospinal fluid neuropathological biomarkers in beta-propeller protein-associated neurodegeneration, with complicated parkinsonian phenotype.

Seizure in Neurodegeneration with Brain Iron Accumulation: A Systematic Review.

A neurodegeneration gene, WDR45, links impaired ferritinophagy to iron accumulation.

Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases.

Physiological significance of WDR45, a responsible gene for β-propeller protein associated neurodegeneration (BPAN), in brain development.

A conserved ATG2 binding site in WIPI4 and yeast Hsv2 is disrupted by mutations causing β-propeller protein-associated neurodegeneration.

Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration.

Autophagic defects observed in fibroblasts from a patient with β-propeller protein-associated neurodegeneration.

Neurodegeneration with brain iron accumulation: Characterization of clinical, radiological, and genetic features of pediatric patients from Southern India.

Characteristic Neuroimaging Findings in β-propeller Protein-associated Neurodegeneration.

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.

The BPAN and intellectual disability disease proteins WDR45 and WDR45B modulate autophagosome-lysosome fusion.

A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse.

WDR45 Mutation Impairs the Autophagic Degradation of Transferrin Receptor and Promotes Ferroptosis.

X-Linked Parkinsonism: Phenotypic and Genetic Heterogeneity.

Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders.

WDR45, one gene associated with multiple neurodevelopmental disorders.

Cerebellar dentate nuclei swelling: a new and early magnetic resonance imaging finding of beta-propeller protein-associated neurodegeneration.

β-propeller proteins WDR45 and WDR45B regulate autophagosome maturation into autolysosomes in neural cells.

Early-Onset Parkinsonism and Halo Sign: Beta-propeller Proteinassociated Neurodegeneration.

Expanding the genotypic and phenotypic spectrum of Beta-propeller protein-associated neurodegeneration.

Beta-propeller protein-associated neurodegeneration presenting Rett-like features: A case report and literature review.

De novo variants in WDR45 underlie beta-propeller protein-associated neurodegeneration in five independent families.

T2 Star-weighted MRI of Beta-propeller Protein-associated Neurodegeneration.

Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration.

High-amplitude fast activity in EEG: An early diagnostic marker in children with beta-propeller protein-associated neurodegeneration (BPAN).

Serial MRI alterations of pediatric patients with beta-propeller protein associated neurodegeneration (BPAN).

[A case of novel WDR45 mutation with beta-propeller protein-associated neurodegeneration (BPAN) presenting asymmetrical extrapyramidal signs].

A rare cause of epileptic encephalopathy: a beta-propeller protein associated neurodegeneration case with a new mutation and literature review.

[A phenotypic and genetic study on β-propeller protein-associated neurodegeneration].

Beta-Propeller Protein-Associated Neurodegeneration (BPAN) Detected in a Child with Epileptic Spasms.

Early-onset presentation of a new subtype of β-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient.

Is WDR45 the missing link for ER stress-induced autophagy in beta-propeller associated neurodegeneration?

Childhood Dystonia-Parkinsonism Following Infantile Spasms-Clinical Clue to Diagnosis in Early Beta-Propeller Protein-Associated Neurodegeneration.

Functional evidence for a de novo mutation in WDR45 leading to BPAN in a Chinese girl.

Single-center experience with Beta-propeller protein-associated neurodegeneration (BPAN); expanding the phenotypic spectrum.

Role of Wdr45b in maintaining neural autophagy and cognitive function.

WDR45 contributes to neurodegeneration through regulation of ER homeostasis and neuronal death.

A Case with Beta-Propeller Protein Associated Neurodegeneration with Smooth Response to Levodopa Treatment.

Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β-Propeller Protein-Associated Neurodegeneration.

A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis.

Beta-propeller protein associated neurodegeneration (BPAN); the first report of three patients from Iran with de novo novel mutations.

Ischemic Fasciitis of the Left Buttock in a 40-Year-Old Woman with Beta-Propeller Protein-Associated Neurodegeneration (BPAN).

Beta-propeller protein-associated neurodegeneration (BPAN) as a genetically simple model of multifaceted neuropathology resulting from defects in autophagy.

Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells.

Ocular and systemic manifestations of beta-propeller protein-associated neurodegeneration.

A Patient with Beta-Propeller Protein-Associated Neurodegeneration: Treatment with Iron Chelation Therapy.

Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient.

Beta-propeller protein-associated neurodegeneration: a case report and review of the literature.

Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.

Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know.

A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45.

Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report.

Presynaptic Dopaminergic Degeneration in a Patient with Beta-Propeller Protein-Associated Neurodegeneration Documented by Dopamine Transporter Positron Emission Tomography Images: A Case Report.

Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy.

Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.

Clinical and Imaging Presentation of a Patient with Beta-Propeller Protein-Associated Neurodegeneration, a Rare and Sporadic form of Neurodegeneration with Brain Iron Accumulation (NBIA).

Clinical features of a female with WDR45 mutation complicated by infantile spasms: a case report and literature review.

Novel WDR45 mutation causing beta-propeller protein associated neurodegeneration (BPAN) in two monozygotic twins.

Ferrous Iron Up-regulation in Fibroblasts of Patients with Beta Propeller Protein-Associated Neurodegeneration (BPAN).

A novel WDR45 mutation in a patient with β-propeller protein-associated neurodegeneration.

A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.

[A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood].

WDR45 mutations in three male patients with West syndrome.

Beta Propellar Protein-Associated Neurodegeneration: A Rare Cause of Infantile Autistic Regression and Intracranial Calcification.

Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans.

Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.

Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation.

Lessons from a pair of siblings with BPAN.

Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.

Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay.

Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy.

Beta-Propeller-Protein-Associated Neurodegeneration: A Case of Mutation in WDR45.

The autophagy gene Wdr45/Wipi4 regulates learning and memory function and axonal homeostasis.

Stereotypic Hand Movements in β-Propeller Protein-Associated Neurodegeneration: First Video Report.

High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism.