Cargando…

Targeting Lyn Kinase in Chorea-Acanthocytosis: A Translational Treatment Approach in a Rare Disease

Background: Chorea-acanthocytosis (ChAc) is a neurodegenerative disease caused by mutations in the VPS13A gene. It is characterized by several neurological symptoms and the appearance of acanthocytes. Elevated tyrosine kinase Lyn activity has been recently identified as one of the key pathophysiolog...

Descripción completa

Detalles Bibliográficos
Autores principales:	Peikert, Kevin, Glaß, Hannes, Federti, Enrica, Matte, Alessandro, Pelzl, Lisann, Akgün, Katja, Ziemssen, Tjalf, Ordemann, Rainer, Lang, Florian, De Franceschi, Lucia, Hermann, Andreas
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8150322/ https://www.ncbi.nlm.nih.gov/pubmed/34068769 http://dx.doi.org/10.3390/jpm11050392

Ejemplares similares

Therapeutic targeting of Lyn kinase to treat chorea-acanthocytosis
por: Peikert, Kevin, et al.
Publicado: (2021)

Adaptative Up-Regulation of PRX2 and PRX5 Expression Characterizes Brain from a Mouse Model of Chorea-Acanthocytosis
por: Federti, Enrica, et al.
Publicado: (2021)

Changes in Blood Cell Deformability in Chorea-Acanthocytosis and Effects of Treatment With Dasatinib or Lithium
por: Reichel, Felix, et al.
Publicado: (2022)

Lithium Sensitive ORAI1 Expression, Store Operated Ca(2+) Entry and Suicidal Death of Neurons in Chorea-Acanthocytosis
por: Pelzl, Lisann, et al.
Publicado: (2017)

Decreased Na(+)/K(+) ATPase Expression and Depolarized Cell Membrane in Neurons Differentiated from Chorea-Acanthocytosis Patients
por: Hosseinzadeh, Zohreh, et al.
Publicado: (2020)

Chorea‐Acanthocytosis Presenting with Parkinsonism‐Dystonia without Chorea
por: Monfrini, Edoardo, et al.
Publicado: (2023)

Chorea-acanthocytosis: a case report
por: Thapa, Lekhjung, et al.
Publicado: (2016)

Combined Dendritic and Axonal Deterioration Are Responsible for Motoneuronopathy in Patient-Derived Neuronal Cell Models of Chorea-Acanthocytosis
por: Glaß, Hannes, et al.
Publicado: (2020)

The Erythrocyte Sedimentation Rate and Its Relation to Cell Shape and Rigidity of Red Blood Cells from Chorea-Acanthocytosis Patients in an Off-Label Treatment with Dasatinib
por: Rabe, Antonia, et al.
Publicado: (2021)

Chorea–Acanthocytosis and the Huntington Disease Allele in an Irish Family
por: Murphy, Olwen C., et al.
Publicado: (2018)

Axial Sensory Tricks in Chorea–Acanthocytosis: Insights into Phenomenology
por: Bhidayasiri, Roongroj, et al.
Publicado: (2017)

Two case reports of chorea-acanthocytosis and review of literature
por: Huang, Shuangfeng, et al.
Publicado: (2022)

Eighth International Chorea–Acanthocytosis Symposium: Summary of Workshop Discussion and Action Points
por: Pappas, Samuel S., et al.
Publicado: (2017)

Globus Pallidus Interna Deep Brain Stimulation for Chorea-Acanthocytosis
por: Lee, Jae-Hyeok, et al.
Publicado: (2015)

Chorea-acanthocytosis: A Case Report with Review of Oral Manifestations
por: Urs, Aadithya B., et al.
Publicado: (2021)

Short and Long Term Outcome of Bilateral Pallidal Stimulation in Chorea-Acanthocytosis
por: Miquel, Marie, et al.
Publicado: (2013)

Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations
por: Paucar, Martin, et al.
Publicado: (2018)

Subthalamic nucleus deep brain stimulation in two siblings with chorea-acanthocytosis
por: Wu, Yunhao, et al.
Publicado: (2020)

Chorea-acanthocytosis: 3 New Families with Novel Genetic and Metabolic Findings
por: Abbas, Mirza Masoom, et al.
Publicado: (2021)

Chorea-Acanthocytosis in a Chinese Family With a Pseudo-Dominant Inheritance Mode
por: Yi, Fang, et al.
Publicado: (2018)

Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations
por: Niemelä, Valter, et al.
Publicado: (2020)

Efficacy of Deep Brain Stimulation in a Patient with Genetically Confirmed Chorea-Acanthocytosis
por: Richard, Alby, et al.
Publicado: (2019)

Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis
por: Nishida, Yoshiaki, et al.
Publicado: (2019)

Cooccurrence of Chorea-Acanthocytosis and Mesial Temporal Sclerosis: A Possible Role of Caudate Nucleus
por: Salari, Mehri, et al.
Publicado: (2017)

Pallidus Stimulation for Chorea-Acanthocytosis: A Systematic Review and Meta-Analysis of Individual Data
por: He, Weibin, et al.
Publicado: (2022)

Cortico-subthalamic Coherence in a Patient With Dystonia Induced by Chorea-Acanthocytosis: A Case Report
por: Cao, Chunyan, et al.
Publicado: (2019)

Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing
por: Walker, Susan, et al.
Publicado: (2018)

Criminal Behaviour Associated with a Novel Mutation in the VPS13A-Gene Causing Chorea-Acanthocytosis
por: Elmgreen, Søren Bruno
Publicado: (2019)

Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel VPS13A Mutation
por: Weber, Juliane, et al.
Publicado: (2019)

Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A
por: Luo, Fang-Mei, et al.
Publicado: (2021)

XK is a partner for VPS13A: a molecular link between Chorea-Acanthocytosis and McLeod Syndrome
por: Park, Jae-Sook, et al.
Publicado: (2020)

Identification of two compound heterozygous VPS13A large deletions in chorea‐acanthocytosis only by protein and quantitative DNA analysis
por: Spieler, Derek, et al.
Publicado: (2020)

Corrigendum: Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A
por: Luo, Fang-Mei, et al.
Publicado: (2021)

Acanthocytosis and HyperCKemia
por: Yiş, Uluç, et al.
Publicado: (2018)

New Therapeutic Options for the Treatment of Sickle Cell Disease
por: Matte, Alessandro, et al.
Publicado: (2019)

Yeast-model-based study identified myosin- and calcium-dependent calmodulin signalling as a potential target for drug intervention in chorea-acanthocytosis
por: Soczewka, Piotr, et al.
Publicado: (2019)

Novel VPS13A Gene Mutations Identified in Patients Diagnosed with Chorea-acanthocytosis (ChAc): Case Presentation and Literature Review
por: Shen, Yan, et al.
Publicado: (2017)

A Case of Genetically Confirmed Chorea-Acanthocytosis: Brain [(18)F]FDG-PET and [(18)F]FP-CIT-PET Findings
por: Lee, Jong-Mok, et al.
Publicado: (2020)

Peripheral proinflammatory Th1/Th17 immune cell shift is linked to disease severity in amyotrophic lateral sclerosis
por: Jin, Mengmeng, et al.
Publicado: (2020)

McLeod syndrome and acanthocytosis
por: Mehndiratta, M.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_j0vc9vjm2o3ccpscldbe4sovu3