Precision medicine in pantothenate kinase-associated neurodegeneration

Precision medicine in pantothenate kinase-associated neurodegeneration

Neurodegeneration with brain iron accumulation is a broad term that describes a heterogeneous group of progressive and invalidating neurologic disorders in which iron deposits in certain brain areas, mainly the basal ganglia. The predominant clinical symptoms include spasticity, progressive dystonia...

Full description

Bibliographic Details
Main Authors:	Mónica Alvarez-Cordoba, Marina Villanueva-Paz, Irene Villalón-García, Suleva Povea-Cabello, Juan M Suárez-Rivero, Marta Talaverón-Rey, Javier Abril-Jaramillo, Ana Belén Vintimilla-Tosi, José A Sánchez-Alcázar
Format:	Article
Language:	English
Published:	Wolters Kluwer Medknow Publications 2019-01-01
Series:	Neural Regeneration Research
Subjects:	neurodegeneration with brain iron accumulation; pantothenate kinase-associated neurodegeneration; pantothenate kinase 2; pantothenate; induced neurons; precision medicine; induced neuron; fibroblast
Online Access:	http://www.nrronline.org/article.asp?issn=1673-5374;year=2019;volume=14;issue=7;spage=1177;epage=1185;aulast=Alvarez-Cordoba

Similar Items

Down regulation of the expression of mitochondrial phosphopantetheinyl-proteins in pantothenate kinase-associated neurodegeneration: pathophysiological consequences and therapeutic perspectives
by: Mónica Álvarez-Córdoba, et al.
Published: (2021-05-01)

Therapeutic approach with commercial supplements for pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels
by: Mónica Álvarez-Córdoba, et al.
Published: (2022-08-01)

Novel Compound Heterozygous Mutations in the Pantothenate Kinase 2 Gene in a Korean Patient with Atypical Pantothenate Kinase Associated Neurodegeneration
by: Sung-Hyouk Kim, et al.
Published: (2009-05-01)

Patient-Derived Cellular Models for Polytarget Precision Medicine in Pantothenate Kinase-Associated Neurodegeneration
by: Mónica Álvarez-Córdoba, et al.
Published: (2023-09-01)

Alpha-lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels
by: Marta Talaverón-Rey, et al.
Published: (2023-04-01)

A novel homozygous variation in the PANK2 gene in two Persian siblings with atypical pantothenate kinase associated neurodegeneration
by: Amir Hasan Habibi, et al.
Published: (2019-03-01)

Advances in inherited and clinical research of pantothenate kinase⁃associated neurodegeneration
by: Xiao⁃yuan LI, et al.
Published: (2012-06-01)

Pantothenate kinase-associated neurodegeneration: Clinical aspects, diagnosis and treatments
by: Saeed Razmeh, et al.
Published: (2018-04-01)

Novel PANK2 mutation identified in patient with pantothenate kinase-associated neurodegeneration
by: Svetel Marina, et al.
Published: (2020-01-01)

A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2
by: Maike Werning, et al.
Published: (2022-02-01)

Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans
by: Jae-Hyeok Lee, et al.
Published: (2016-01-01)

A pilot trial of deferiprone in pantothenate kinase-associated neurodegeneration patients
by: Mohammad Rohani, et al.
Published: (2018-02-01)

Atypical pantothenate kinase-associated neurodegeneration with variable phenotypes in an Egyptian family
by: Ali S. Shalash, et al.
Published: (2021-07-01)

Neurodegeneration with brain iron accumulation for stem-cell therapy: Anesthetic management
by: Ruchi A Jain, et al.
Published: (2018-01-01)

Subthalamic nucleus deep brain stimulation in the treatment of pantothenate kinase ⁃ associated neurodegeneration: one case report
by: LÜ Hong, et al.
Published: (2022-03-01)

Case Report: Hallervorden–Spatz Syndrome with Seizures
by: Sunil Gothwal, et al.
Published: (2016-04-01)

A Male Patient Showing Abnormal Gait and Dysarthria with Psychotic Symptoms
by: Eu Jene Choi, et al.
Published: (2020-09-01)

All that glitters is not gold: When motor and vocal tics in a child do not match Tourette syndrome: A case report
by: Raquel Quimas Molina da Costa, et al.

Botulinum Toxin-A Injection in the Treatment of Spasticity in a Infantile-Onset Neurodegeneration With Brain Iron Accumulation: A Case Report
by: Hwan Kwon Do, et al.
Published: (2018-04-01)

Calcium pantothenate

Pantothenate kinase-2 (Pank2) silencing causes cell growth reduction, cell-specific ferroportin upregulation and iron deregulation
by: Maura Poli, et al.
Published: (2010-08-01)

Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis
by: Noel Lorenzo Villalba, et al.
Published: (2020-02-01)

Enhanced supply of acetyl-CoA by exogenous pantothenate kinase promotes synthesis of poly(3-hydroxybutyrate)
by: Hirotaka Kudo, et al.
Published: (2023-04-01)

Pilot trial on the efficacy and safety of pantethine in children with pantothenate kinase-associated neurodegeneration: a single-arm, open-label study
by: Xuting Chang, et al.
Published: (2020-09-01)

Changes in Cerebral Gray and White Matter in Patients with Pantothenate Kinase-Associated Neurodegeneration: A Long-Term Magnetic Resonance Imaging Follow-Up Study
by: Pedro Roa-Sanchez, et al.
Published: (2021-05-01)

Long-Term Outcomes of Deep Brain Stimulation in Pantothenate Kinase-Associated Neurodegeneration-Related Dystonia
by: Kyung Ah Woo, et al.
Published: (2022-09-01)

Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: a case report and literature review
by: Yilun Tao, et al.
Published: (2023-04-01)

Hallervorden-Spatz disease: 3 cases report and review of literatures
by: Shi-nan WANG, et al.
Published: (2014-02-01)

Functional connectivity of the motor system in dystonia due to PKAN
by: Peter Stoeter, et al.
Published: (2021-03-01)

A novel way to synthesize pantothenate in bacteria involves β‐alanine synthase present in uracil degradation pathway
by: Mariana López‐Sámano, et al.
Published: (2020-04-01)

Pantothenate kinase: A promising therapeutic target against pathogenic Clostridium species
by: Soharth Hasnat, et al.
Published: (2024-07-01)

Pantothenate biosynthesis in Toxoplasma gondii tachyzoites is not a drug target
by: Vanessa M. Howieson, et al.
Published: (2023-08-01)

Improving acetyl-CoA biosynthesis in Saccharomyces cerevisiae via the overexpression of pantothenate kinase and PDH bypass
by: Liu, Wenshan, et al.
Published: (2018)

Type 1 neurodegeneration with brain iron accumulation: a case report
by: Pedro Enrique Labrada-Aguilera, et al.
Published: (2022-06-01)

Assessment of the feed additive consisting of calcium D‐pantothenate for all animal species for the renewal of its authorisation (BASF SE)
by: EFSA Panel on Additives and Products or Substances used in Animal Feed (FEEDAP), et al.
Published: (2024-07-01)

Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders
by: Vassilena Iankova, et al.
Published: (2021-04-01)

Scientific Opinion on the safety and efficacy of pantothenic acid (calcium D‐pantothenate and D‐panthenol) as a feed additive for all animal species based on a dossier submitted by VITAC EEIG
by: EFSA Panel on Additives and Products or Substances used in Animal Feed (FEEDAP)
Published: (2011-11-01)

Scientific Opinion on the safety and efficacy of pantothenic acid (calcium D‐pantothenate and D‐panthenol) as a feed additive for all animal species based on a dossier submitted by Lohmann Animal Health
by: EFSA Panel on Additives and Products or Substances used in Animal Feed (FEEDAP)
Published: (2011-11-01)

PPARα controls the intracellular coenzyme A concentration via regulation of PANK1α gene expression1
by: Gayathri Ramaswamy, et al.
Published: (2004-01-01)

Investigation of apoptotic effects of D-pantothenic acid on PC-3 prostate cancer cells
by: Ares Alizade, et al.
Published: (2020-12-01)