Cargando…

Brain Atrophy and White Matter Damage Linked to Peripheral Bioenergetic Deficits in the Neurodegenerative Disease FXTAS

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder affecting subjects (premutation carriers) with a 55-200 CGG-trinucleotide expansion in the 5′UTR of the fragile X mental retardation 1 gene (FMR1) typically after age 50. As both the presence of white matter hyperint...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Junyi, Napoli, Eleonora, Kim, Kyoungmi, McLennan, Yingratana A., Hagerman, Randi J., Giulivi, Cecilia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8431233/ https://www.ncbi.nlm.nih.gov/pubmed/34502080 http://dx.doi.org/10.3390/ijms22179171

Ejemplares similares

Characterization of the Metabolic, Clinical and Neuropsychological Phenotype of Female Carriers of the Premutation in the X-Linked FMR1 Gene
por: Napoli, Eleonora, et al.
Publicado: (2020)

Ataxia as the Major Manifestation of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Case Series
por: Salcedo-Arellano, Maria Jimena, et al.
Publicado: (2020)

Brain Metabolomics in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
por: Salcedo-Arellano, Maria Jimena, et al.
Publicado: (2023)

Impact of FMR1 Premutation on Neurobehavior and Bioenergetics in Young Monozygotic Twins
por: Napoli, Eleonora, et al.
Publicado: (2018)

Fragile X Syndrome
por: McLennan, Yingratana, et al.
Publicado: (2011)

Deficits in Prenatal Serine Biosynthesis Underlie the Mitochondrial Dysfunction Associated with the Autism-Linked FMR1 Gene
por: Nolin, Sarah L., et al.
Publicado: (2021)

Cognitive Deficits and Associated ERP N400 Abnormalities in FXTAS With Parkinsonism
por: Wang, Xiao-Hong, et al.
Publicado: (2018)

Increased Pain Symptomatology Among Females vs. Males With Fragile X-Associated Tremor/Ataxia Syndrome
por: Johnson, Devon, et al.
Publicado: (2022)

Emerging topics in FXTAS
por: Hall, Deborah A, et al.
Publicado: (2014)

Premutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding
por: Napoli, Eleonora, et al.
Publicado: (2016)

Artificial neural network applied to fragile X-associated tremor/ataxia syndrome stage diagnosis based on peripheral mitochondrial bioenergetics and brain imaging outcomes
por: Giulivi, Cecilia, et al.
Publicado: (2022)

Erratum: Emerging topics in FXTAS
por: Hall, Deborah A, et al.
Publicado: (2015)

Current Gaps in Understanding the Molecular Basis of FXTAS
por: Hagerman, Paul J.
Publicado: (2012)

Plasma Biomarkers for Monitoring Brain Pathophysiology in FMR1 Premutation Carriers
por: Giulivi, Cecilia, et al.
Publicado: (2016)

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications
por: Cabal-Herrera, Ana Maria, et al.
Publicado: (2020)

Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer’s Disease
por: Aydin, Elber Yuksel, et al.
Publicado: (2020)

Middle Cerebellar Peduncle Width—A Novel MRI Biomarker for FXTAS?
por: Shelton, Annie L., et al.
Publicado: (2018)

Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems
por: Hagerman, Randi J, et al.
Publicado: (2008)

Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases
por: Lechpammer, Mirna, et al.
Publicado: (2017)

Zdhhc13-dependent Drp1 S-palmitoylation impacts brain bioenergetics, anxiety, coordination and motor skills
por: Napoli, Eleonora, et al.
Publicado: (2017)

Blood Proteome Profiling Reveals Biomarkers and Pathway Alterations in Fragile X PM at Risk for Developing FXTAS
por: Zafarullah, Marwa, et al.
Publicado: (2023)

Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology
por: Wenzel, H. Jürgen, et al.
Publicado: (2019)

Presence of Middle Cerebellar Peduncle Sign in FMR1 Premutation Carriers Without Tremor and Ataxia
por: Famula, Jessica L., et al.
Publicado: (2018)

Calcium-Dependent Interaction of Nitric Oxide Synthase with Cytochrome c Oxidase: Implications for Brain Bioenergetics
por: Haynes, Virginia, et al.
Publicado: (2023)

Case Report: Coexistence of Alzheimer-Type Neuropathology in Fragile X-Associated Tremor Ataxia Syndrome
por: Salcedo-Arellano, Maria Jimena, et al.
Publicado: (2021)

Evidence of reactive oxygen species-mediated damage to mitochondrial DNA in children with typical autism
por: Napoli, Eleonora, et al.
Publicado: (2013)

Potential Therapeutic Use of the Ketogenic Diet in Autism Spectrum Disorders
por: Napoli, Eleonora, et al.
Publicado: (2014)

White matter hyperintensities and neurodegenerative dementias
por: Sassi, Celeste
Publicado: (2019)

A Chinese case of fragile X-associated tremor/ataxia syndrome (FXTAS) with orthostatic tremor:case report and literature review on tremor in FXTAS
por: Zhao, Cuiping, et al.
Publicado: (2020)

Anopheles stephensi p38 MAPK signaling regulates innate immunity and bioenergetics during Plasmodium falciparum infection
por: Wang, Bo, et al.
Publicado: (2015)

White matter capillaries in vascular and neurodegenerative dementias
por: Hase, Yoshiki, et al.
Publicado: (2019)

Mitochondrial NAD(+)-dependent malic enzyme from Anopheles stephensi: a possible novel target for malaria mosquito control
por: Pon, Jennifer, et al.
Publicado: (2011)

Neurological, Psychiatric, and Biochemical Aspects of Thiamine Deficiency in Children and Adults
por: Dhir, Shibani, et al.
Publicado: (2019)

Assessment of Molecular Measures in Non-FXTAS Male Premutation Carriers
por: Al Olaby, Reem R., et al.
Publicado: (2018)

Acute Stroke in Middle Cerebellar Peduncle in a Patient With FXTAS
por: Hall, Deborah A., et al.
Publicado: (2018)

Voluntary saccade inhibition deficits correlate with extended white-matter cortico-basal atrophy in Huntington's disease
por: Vaca-Palomares, Israel, et al.
Publicado: (2017)

PPARα-targeted mitochondrial bioenergetics mediate repair of intestinal barriers at the host–microbe intersection during SIV infection
por: Crakes, Katti R., et al.
Publicado: (2019)

White Matter Alterations in Deficit Schizophrenia
por: Rowland, Laura M., et al.
Publicado: (2008)

A Longitudinal Study of Executive Function in Daily Life in Male Fragile X Premutation Carriers and Association with FXTAS Conversion
por: Hessl, David, et al.
Publicado: (2023)

Regulation of neuronal bioenergetics as a therapeutic strategy in neurodegenerative diseases
por: Onyango, Isaac G., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_ipqiuoovb6ucc7ieua8mtn0sbn