Cargando…

Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia

Detalles Bibliográficos
Autores principales:	Olney, Nicholas T., Alquezar, Carolina, Ramos, Eliana Marisa, Nana, Alissa L., Fong, Jamie C., Karydas, Anna M., Taylor, Joanne B., Stephens, Melanie L., Argouarch, Andrea R., Van Berlo, Victoria A., Dokuru, Deepika R., Sherr, Elliott H., Jicha, Gregory A., Dillon, William P., Desikan, Rahul S., De May, Mary, Seeley, William W., Coppola, Giovanni, Miller, Bruce L., Kao, Aimee W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Berlin Heidelberg 2017
Materias:	Correspondence
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5645431/ https://www.ncbi.nlm.nih.gov/pubmed/28828560 http://dx.doi.org/10.1007/s00401-017-1764-0

Ejemplares similares

Regionally specific TSC1 and TSC2 gene expression in tuberous sclerosis complex
por: Li, Yi, et al.
Publicado: (2018)

The Neurodevelopmental Pathogenesis of Tuberous Sclerosis Complex (TSC)
por: Feliciano, David M.
Publicado: (2020)

Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex
por: Rosengren, Thomas, et al.
Publicado: (2020)

Dopamine receptor D(4) (DRD(4)) polymorphisms with reduced functional potency intensify atrophy in syndrome-specific sites of frontotemporal dementia
por: Butler, P.M., et al.
Publicado: (2019)

TSC1 loss increases risk for tauopathy by inducing tau acetylation and preventing tau clearance via chaperone-mediated autophagy
por: Alquezar, Carolina, et al.
Publicado: (2021)

Myelin Pathology Beyond White Matter in Tuberous Sclerosis Complex (TSC) Cortical Tubers
por: Mühlebner, Angelika, et al.
Publicado: (2020)

Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece
por: Avgeris, Socratis, et al.
Publicado: (2017)

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis
por: Rosset, Clévia, et al.
Publicado: (2017)

TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review
por: Rosset, Clévia, et al.
Publicado: (2017)

tsc2 mutant zebrafish model of tuberous sclerosis complex
Publicado: (2011)

TSC1 Mutations in Keratoconus Patients With or Without Tuberous Sclerosis
por: Bykhovskaya, Yelena, et al.
Publicado: (2017)

Molecular rescue of Tsc1-ablated cortical tuber mice
por: Robens, Barbara, et al.
Publicado: (2016)

Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM
por: Müller, Annelieke R., et al.
Publicado: (2023)

TSC1 and TSC2 Genotype in Tuberous Sclerosis Complex: Are Other Manifestations of this Multisystem Disease Affected by Genotype?
por: Darling, Thomas N., et al.
Publicado: (2021)

Processing of progranulin into granulins involves multiple lysosomal proteases and is affected in frontotemporal lobar degeneration
por: Mohan, Swetha, et al.
Publicado: (2021)

Functional characterisation of the TSC1–TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex
por: Nellist, Mark, et al.
Publicado: (2008)

Progranulin levels in blood in Alzheimer's disease and mild cognitive impairment
por: Cooper, Yonatan A., et al.
Publicado: (2018)

Anterior insula degeneration in frontotemporal dementia
por: Seeley, William W.
Publicado: (2010)

Correction: Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM
por: Müller, Annelieke R., et al.
Publicado: (2023)

Nipple angiofibromas with loss of TSC2 are associated with tuberous sclerosis complex
por: Nathan, Neera, et al.
Publicado: (2015)

Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care
por: Annear, Nicholas M. P., et al.
Publicado: (2019)

The importance of imaging in tuberous sclerosis complex (tsc) in children: Two cases
por: Dedushi, Kreshnike, et al.
Publicado: (2021)

A novel mutation P112H in the TARDBP gene associated with frontotemporal lobar degeneration without motor neuron disease and abundant neuritic amyloid plaques
por: Moreno, Fermin, et al.
Publicado: (2015)

(18)F-flortaucipir (AV-1451) tau PET in frontotemporal dementia syndromes
por: Tsai, Richard M., et al.
Publicado: (2019)

First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants
por: Reyna-Fabián, Miriam E., et al.
Publicado: (2020)

Malignancy of renal angiomyolipoma from tuberous sclerosis complex with TSC2 mutation
por: Huang, Yu-Jing, et al.
Publicado: (2019)

A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma
por: Ahmad, Saba, et al.
Publicado: (2020)

A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC)
por: Zöllner, Johann Philipp, et al.
Publicado: (2020)

A novel mouse model of tuberous sclerosis complex (TSC): eye-specific Tsc1-ablation disrupts visual-pathway development
por: Jones, Iwan, et al.
Publicado: (2015)

Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations
por: Bongaarts, Anika, et al.
Publicado: (2017)

Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations
por: Arrant, Andrew E., et al.
Publicado: (2019)

One-Hit Wonders and 2-Hit Tubers: A Second-Hit to TSC2 Causes Tuber-Like Cells in Spheroids
por: Goswami, Sonal, et al.
Publicado: (2019)

Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex
por: Mozaffari, Melika, et al.
Publicado: (2009)

Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid‐capture next‐generation sequencing
por: Wang, Siyu, et al.
Publicado: (2021)

Whole Exome Sequencing in a Series of Patients with a Clinical Diagnosis of Tuberous Sclerosis Not Confirmed by Targeted TSC1/TSC2 Sequencing
por: Kovesdi, Erzsebet, et al.
Publicado: (2021)

Therapeutic Trial of Metformin and Bortezomib in a Mouse Model of Tuberous Sclerosis Complex (TSC)
por: Auricchio, Neil, et al.
Publicado: (2012)

TSC2 rare germline variants in non-tuberous sclerosis patients with neuroendocrine neoplasias
por: Asprino, Paula Fontes, et al.
Publicado: (2017)

Everolimus for the treatment of refractory seizures associated with tuberous sclerosis complex (TSC): current perspectives
por: Overwater, Iris E, et al.
Publicado: (2019)

Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family
por: Mowrey, Kate, et al.
Publicado: (2020)

Postmortem Human Dura Mater Cells Exhibit Phenotypic, Transcriptomic and Genetic Abnormalities that Impact their Use for Disease Modeling
por: Argouarch, Andrea R., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_o8b0emb888vs7a6qr91uc2h2id