Cargando…

Altered chromatin organization and SUN2 localization in mandibuloacral dysplasia are rescued by drug treatment

Mandibuloacral dysplasia type A (MADA) is a rare laminopathy characterized by growth retardation, craniofacial anomalies, bone resorption at specific sites including clavicles, phalanges and mandibula, mottled cutaneous pigmentation, skin rigidity, partial lipodystrophy, and insulin resistance. The...

Descripción completa

Detalles Bibliográficos
Autores principales:	Camozzi, Daria, D’Apice, Maria Rosaria, Schena, Elisa, Cenni, Vittoria, Columbaro, Marta, Capanni, Cristina, Maraldi, Nadir M., Squarzoni, Stefano, Ortolani, Michela, Novelli, Giuseppe, Lattanzi, Giovanna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer-Verlag 2012
Materias:	Original Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3432780/ https://www.ncbi.nlm.nih.gov/pubmed/22706480 http://dx.doi.org/10.1007/s00418-012-0977-5

Ejemplares similares

Rapamycin treatment of Mandibuloacral Dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics
por: Cenni, Vittoria, et al.
Publicado: (2014)

Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution
por: Capanni, Cristina, et al.
Publicado: (2012)

Diverse lamin-dependent mechanisms interact to control chromatin dynamics: Focus on laminopathies
por: Camozzi, Daria, et al.
Publicado: (2014)

Autophagic degradation of farnesylated prelamin A as a therapeutic approach to lamin-linked progeria
por: Cenni, V., et al.
Publicado: (2011)

Erratum - Autophagic Degradation of Farnesylated Prelamin a as a Therapeutic Approach to Lamin-Linked Progeria
por: Cenni, V., et al.
Publicado: (2013)

Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatment
por: Columbaro, M., et al.
Publicado: (2005)

All-trans retinoic acid and rapamycin normalize Hutchinson Gilford progeria fibroblast phenotype
por: Pellegrini, Camilla, et al.
Publicado: (2015)

Cutaneous and metabolic defects associated with nuclear abnormalities in a transgenic mouse model expressing R527H lamin A mutation causing mandibuloacral dysplasia type A (MADA) syndrome
por: D’Apice, Maria Rosaria, et al.
Publicado: (2020)

Lamins and bone disorders: current understanding and perspectives
por: Gargiuli, Chiara, et al.
Publicado: (2018)

Different prelamin A forms accumulate in human fibroblasts: a study in experimental models and progeria
por: Dominici, S., et al.
Publicado: (2009)

Interleukin‐6 neutralization ameliorates symptoms in prematurely aged mice
por: Squarzoni, Stefano, et al.
Publicado: (2021)

Emerin Phosphorylation during the Early Phase of the Oxidative Stress Response Influences Emerin–BAF Interaction and BAF Nuclear Localization
por: Cenni, Vittoria, et al.
Publicado: (2020)

Hutchinson-Gilford Progeria Versus Mandibuloacral Dysplasia
por: Mehrez, Mennat Allah I, et al.
Publicado: (2014)

Barrier-to-Autointegration Factor (BAF) involvement in prelamin A-related chromatin organization changes
por: Loi, Manuela, et al.
Publicado: (2015)

Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy
por: Bai, Shaochun, et al.
Publicado: (2014)

Transcatheter Aortic Valve Replacement in a Young Patient With Mandibuloacral Dysplasia
por: Stefanescu Schmidt, Ada C., et al.
Publicado: (2021)

Ankrd2 in Mechanotransduction and Oxidative Stress Response in Skeletal Muscle: New Cues for the Pathogenesis of Muscular Laminopathies
por: Cenni, Vittoria, et al.
Publicado: (2019)

PCAF Involvement in Lamin A/C-HDAC2 Interplay during the Early Phase of Muscle Differentiation
por: Santi, Spartaco, et al.
Publicado: (2020)

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
por: Elouej, Sahar, et al.
Publicado: (2020)

Two Decades after Mandibuloacral Dysplasia Discovery: Additional Cases and Comprehensive View of Disease Characteristics
por: Jéru, Isabelle, et al.
Publicado: (2021)

Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
por: Elouej, Sahar, et al.
Publicado: (2020)

Ankrd2/ARPP is a novel Akt2 specific substrate and regulates myogenic differentiation upon cellular exposure to H(2)O(2)
por: Cenni, Vittoria, et al.
Publicado: (2011)

Modulation of TGFbeta 2 levels by lamin A in U2-OS osteoblast-like cells: understanding the osteolytic process triggered by altered lamins
por: Evangelisti, Camilla, et al.
Publicado: (2015)

The empowerment of translational research: lessons from laminopathies
por: Benedetti, Sara, et al.
Publicado: (2012)

Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China
por: Luo, Di-Qing, et al.
Publicado: (2014)

Ectopic Expression of Ankrd2 Affects Proliferation, Motility and Clonogenic Potential of Human Osteosarcoma Cells
por: Piazzi, Manuela, et al.
Publicado: (2021)

Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome
por: Conte, Chiara, et al.
Publicado: (2011)

Altered adipocyte differentiation and unbalanced autophagy in type 2 Familial Partial Lipodystrophy: an in vitro and in vivo study of adipose tissue browning
por: Pellegrini, Camilla, et al.
Publicado: (2019)

Mandibuloacral dysplasia in a young Vietnamese girl caused by homozygous missense variant c.1579C>T in the LMNA gene with progeria and severe skin lesions
por: Doanh, Le Huu, et al.
Publicado: (2021)

Case Report: An Atypical Form of Familial Partial Lipodystrophy Type 2 Due to Mutation in the Rod Domain of Lamin A/C
por: Cecchetti, Carolina, et al.
Publicado: (2021)

Hutchinson–Gilford Syndrome (Progeria) with Heterozygous Mutation in the LMNA Gene-ENST00000368300.9 Presenting with Mandibuloacral Dysplasia and Acrogeroid Features—Overlap of Premature Aging Syndromes
por: Muralidharan, Sniya, et al.
Publicado: (2022)

Muscular Dystrophy-Associated SUN1 and SUN2 Variants Disrupt Nuclear-Cytoskeletal Connections and Myonuclear Organization
por: Meinke, Peter, et al.
Publicado: (2014)

In Cis Effect of DMPK Expanded Alleles in Myotonic Dystrophy Type 1 Patients Carrying Variant Repeats at 5′ and 3′ Ends of the CTG Array
por: Visconti, Virginia Veronica, et al.
Publicado: (2023)

Potential therapeutic effects of the MTOR inhibitors for preventing ageing and progeria‐related disorders
por: Evangelisti, Camilla, et al.
Publicado: (2016)

Samp1 Mislocalization in Emery-Dreifuss Muscular Dystrophy
por: Mattioli, Elisabetta, et al.
Publicado: (2018)

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy
por: D'Apice, Maria Rosaria, et al.
Publicado: (2004)

Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family
por: Fontana, Luana, et al.
Publicado: (2020)

Mitochondrial dysfunction in mandibular hypoplasia, deafness and progeroid features with concomitant lipodystrophy (MDPL) patients
por: Murdocca, Michela, et al.
Publicado: (2022)

The role of prelamin A post-translational maturation in stress response and 53BP1 recruitment
por: Capanni, Cristina, et al.
Publicado: (2022)

Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines
por: Hitzert, M. M., et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_qcimp7094k335osfjfm0iaobsc