Catherine Bartoli
Overview
Explore the profile of Catherine Bartoli including associated specialties, affiliations and a list of published articles.
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17
Citations
494
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Recent Articles
1.
Cardoso D, Guilbert S, Guigue P, Carabalona A, Harhouri K, Peccate C, et al.
Cell Death Dis
. 2024 Oct;
15(10):723.
PMID: 39353941
Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder associated with features of accelerated aging. HGPS is an autosomal dominant disease caused by a de novo mutation of LMNA...
2.
Santinha D, Vilaca A, Estronca L, Schuler S, Bartoli C, De Sandre-Giovannoli A, et al.
Mol Cell Proteomics
. 2023 Dec;
23(1):100706.
PMID: 38141925
Impaired extracellular matrix (ECM) remodeling is a hallmark of many chronic inflammatory disorders that can lead to cellular dysfunction, aging, and disease progression. The ECM of the aged heart and...
3.
Harhouri K, Cau P, Casey F, Guedenon K, Doubaj Y, Van Maldergem L, et al.
Cells
. 2022 Feb;
11(4).
PMID: 35203262
Progeroid syndromes (PS), including Hutchinson-Gilford Progeria Syndrome (HGPS), are premature and accelerated aging diseases, characterized by clinical features mimicking physiological aging. Most classical HGPS patients carry a de novo point...
4.
Frankel D, Delecourt V, Novoa-Del-Toro E, Robin J, Airault C, Bartoli C, et al.
iScience
. 2022 Feb;
25(2):103757.
PMID: 35118365
Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder, in which an abnormal and toxic protein called progerin, accumulates in cell nuclei, leading to major cellular defects. Among them, chromatin...
5.
Elouej S, Harhouri K, Le Mao M, Baujat G, Nampoothiri S, Kayserili H, et al.
Nat Commun
. 2020 Oct;
11(1):5349.
PMID: 33077719
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
6.
Elouej S, Harhouri K, Le Mao M, Baujat G, Nampoothiri S, Kayserili H, et al.
Nat Commun
. 2020 Sep;
11(1):4589.
PMID: 32917887
Mandibuloacral dysplasia syndromes are mainly due to recessive LMNA or ZMPSTE24 mutations, with cardinal nuclear morphological abnormalities and dysfunction. We report five homozygous null mutations in MTX2, encoding Metaxin-2 (MTX2),...
7.
Harhouri K, Frankel D, Bartoli C, Roll P, De Sandre-Giovannoli A, Levy N
Nucleus
. 2018 Apr;
9(1):246-257.
PMID: 29619863
Hutchinson-Gilford progeria syndrome (HGPS) is a sporadic, autosomal dominant disorder characterized by premature and accelerated aging symptoms leading to death at the mean age of 14.6 years usually due to...
8.
Roubertoux P, Baril N, Cau P, Scajola C, Ghata A, Bartoli C, et al.
Behav Genet
. 2017 Mar;
47(3):323.
PMID: 28337630
No abstract available.
9.
Roubertoux P, Baril N, Cau P, Scajola C, Ghata A, Bartoli C, et al.
Behav Genet
. 2017 Feb;
47(3):305-322.
PMID: 28204906
We hypothesize that the trisomy 21 (Down syndrome) is the additive and interactive outcome of the triple copy of different regions of HSA21. Because of the small number of patients...
10.
Harhouri K, Navarro C, Baquerre C, Da Silva N, Bartoli C, Casey F, et al.
Cells
. 2016 Jul;
5(3).
PMID: 27409638
Progeroid laminopathies, including Hutchinson-Gilford Progeria Syndrome (HGPS, OMIM #176670), are premature and accelerated aging diseases caused by defects in nuclear A-type Lamins. Most HGPS patients carry a de novo point...