Cargando…

A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2

Pantothenate kinase-associated neurodegeneration (PKAN) is a progressive neurodegenerative disease caused by mutations in the pantothenate kinase 2 (PANK2) gene and associated with iron deposition in basal ganglia. Pantothenate kinase isoforms catalyze the first step in coenzyme A (CoA) biosynthesis...

Descripción completa

Detalles Bibliográficos
Autores principales:	Werning, Maike, Dobretzberger, Verena, Brenner, Martin, Müllner, Ernst W., Mlynek, Georg, Djinovic-Carugo, Kristina, Baron, David M., Fragner, Lena, Bischoff, Almut T., Büchner, Boriana, Klopstock, Thomas, Weckwerth, Wolfram, Salzer, Ulrich
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8869601/ https://www.ncbi.nlm.nih.gov/pubmed/35204826 http://dx.doi.org/10.3390/biom12020325

Ejemplares similares

PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes
por: Werning, Maike, et al.
Publicado: (2020)

Diagnosis and Treatment of Pantothenate Kinase-Associated Neurodegeneration (PKAN): A Systematic Review
por: Pohane, Meera R, et al.
Publicado: (2023)

Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey
por: Klopstock, Thomas, et al.
Publicado: (2023)

F147. RESTING STATE NETWORKS ALTERATION IN PANTOTHENATE-KINASE ASSOCIATED NEURODEGENERATION (PKAN)
por: Mingoia, Gianluca, et al.
Publicado: (2018)

Pantothenate Kinase-Associated Neurodegeneration (PKAN) With Concomitant Blepharospasm: Unveiling a Clinical Enigma
por: Reddy, Venkat, et al.
Publicado: (2023)

Storage of packed red blood cells impairs an inherent coagulation property of erythrocytes
por: Öhlinger, Thomas, et al.
Publicado: (2022)

Pantothenate kinase-associated neurodegeneration (PKAN) in a child with Down syndrome. A case report and follow-up with MRI
por: Hakim, A, et al.
Publicado: (2015)

Knock-down of pantothenate kinase 2 severely affects the development of the nervous and vascular system in zebrafish, providing new insights into PKAN disease
por: Zizioli, Daniela, et al.
Publicado: (2016)

Functional connectivity of the motor system in dystonia due to PKAN
por: Stoeter, Peter, et al.
Publicado: (2021)

Deciphering the BAR code of membrane modulators
por: Salzer, Ulrich, et al.
Publicado: (2017)

Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase–Associated Neurodegeneration
por: Klopstock, Thomas, et al.
Publicado: (2020)

Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON)—An International Network on Care and Research for Patients With Neurodegeneration With Brain Iron Accumulation (NBIA)
por: Karin, Ivan, et al.
Publicado: (2021)

Massive iron accumulation in PKAN-derived neurons and astrocytes: light on the human pathological phenotype
por: Santambrogio, Paolo, et al.
Publicado: (2022)

Redox Properties of Human Erythrocytes Are Adapted for Vitamin C Recycling
por: Eigenschink, Michael, et al.
Publicado: (2021)

Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic
por: Schiessl-Weyer, Jasmin, et al.
Publicado: (2015)

Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration
por: Marshall, Randall D., et al.
Publicado: (2019)

Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN
por: Christou, Yiolanda-Panayiota, et al.
Publicado: (2017)

4′‐Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN
por: Jeong, Suh Young, et al.
Publicado: (2019)

A Scale to Assess Activities of Daily Living in Pantothenate Kinase‐Associated Neurodegeneration
por: Marshall, Randall D., et al.
Publicado: (2019)

Compartmentalization of Mammalian Pantothenate Kinases
por: Alfonso-Pecchio, Adolfo, et al.
Publicado: (2012)

Pantothenate kinase-associated neurodegeneration
por: Hundallah, Khalid, et al.
Publicado: (2017)

An international registry for neurodegeneration with brain iron accumulation
por: Kalman, Bernadette, et al.
Publicado: (2012)

Automated identification of chalcogen bonds in AlphaFold protein structure database files: is it possible?
por: Carugo, Oliviero, et al.
Publicado: (2023)

Structural biology: A golden era
por: Carugo, Oliviero, et al.
Publicado: (2023)

Mutations in the pantothenate kinase of Plasmodium falciparum confer diverse sensitivity profiles to antiplasmodial pantothenate analogues
por: Tjhin, Erick T., et al.
Publicado: (2018)

Two-faced Fcab prevents polymerization with VEGF and reveals thermodynamics and the 2.15 Å crystal structure of the complex
por: Lobner, Elisabeth, et al.
Publicado: (2017)

THE EFFECTS OF PANTOTHENIC ACID ON RESPIRATORY ACTIVITY
por: Pratt, Ernest F., et al.
Publicado: (1939)

Impact of subunit and oligomeric structure on the thermal and conformational stability of chlorite dismutases
por: Hofbauer, Stefan, et al.
Publicado: (2012)

Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene
por: Yang, Dahae, et al.
Publicado: (2022)

PKAN hiPS-Derived Astrocytes Show Impairment of Endosomal Trafficking: A Potential Mechanism Underlying Iron Accumulation
por: Ripamonti, Maddalena, et al.
Publicado: (2022)

Homodimeric β-Galactosidase from Lactobacillus delbrueckii subsp. bulgaricus DSM 20081: Expression in Lactobacillus plantarum and Biochemical Characterization
por: Nguyen, Tien-Thanh, et al.
Publicado: (2012)

Arresting the Catalytic Arginine in Chlorite Dismutases: Impact on Heme Coordination, Thermal Stability, and Catalysis
por: Schmidt, Daniel, et al.
Publicado: (2021)

A conformation-specific ON-switch for controlling CAR T cells with an orally available drug
por: Zajc, Charlotte U., et al.
Publicado: (2020)

Pantothenate kinase-associated neurodegeneration is not a synucleinopathy
por: Li, A, et al.
Publicado: (2013)

Novel pantothenate derivatives for anti-malarial chemotherapy
por: Pett, Helmi E, et al.
Publicado: (2015)

Precision medicine in pantothenate kinase-associated neurodegeneration
por: Álvarez-Córdoba, Mónica, et al.
Publicado: (2019)

Proposed Therapies for Pantothenate-Kinase-Associated Neurodegeneration
por: Jackowski, Suzanne
Publicado: (2019)

Redesigning therapies for pantothenate kinase–associated neurodegeneration
por: Munshi, Muhammad I., et al.
Publicado: (2022)

Hydrogen peroxide‐mediated conversion of coproheme to heme b by HemQ—lessons from the first crystal structure and kinetic studies
por: Hofbauer, Stefan, et al.
Publicado: (2016)

Novel Compound Heterozygous Mutations in the Pantothenate Kinase 2 Gene in a Korean Patient with Atypical Pantothenate Kinase Associated Neurodegeneration
por: Kim, Sung-Hyouk, et al.
Publicado: (2009)

Cannot write session to /tmp/vufind_sessions/sess_tcpkf4fldcsct45b46ei6mvvun