Volume 10 Supplement 2

Proceedings of the 1st French-Italian meeting on laminopathies and other nuclear envelope-related diseases

Meeting abstracts

Publication charges for this supplement were funded by the 1st French-Italian meeting on laminopathies and other nuclear envelope-related diseases.

1st French-Italian meeting on laminopathies and other nuclear envelope-related diseases. Go to conference site.

Marseille, France15-16 January 2015

Concatenated PDF 10S2

An overview of new translational, clinical and therapeutic perspectives in laminopathies and other nuclear envelope-related diseases.

Authors: Annachiara De Sandre-Giovannoli, Nicolas Levy, Rabah Ben Yaou, France Leturcq, Giovanna Lattanzi and Gisèle Bonne

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):I1

Content type: Introduction Published on: 11 November 2015
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Molecular mechanisms of normal and pathological aging

Authors: Carlos López-Otín

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O1

Content type: Oral presentation Published on: 11 November 2015
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Pluripotent stem cells for pathological modelling of Hutchinson-Gilford Progeria Syndrome (HGPS) and drug discovery

Authors: Xavier Nissan

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O2

Content type: Oral presentation Published on: 11 November 2015
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Development of a SMCs model from HGPS-iPS and proofs of principle

Authors: Lino Ferreira

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O3

Content type: Oral presentation Published on: 11 November 2015
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3D culture system of muscle precursor cell to reveal mechanosensing defects in nuclear envelope related disorders

Authors: Catherine Coirault

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O4

Content type: Oral presentation Published on: 11 November 2015
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Prelamin accumulation in primary endothelial cells induces premature senescence and activation

Authors: Nathalie Bonello-Palot and Catherine Badens

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O5

Content type: Oral presentation Published on: 11 November 2015
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Hypothalamic involvement in premature aging laminopathies

Authors: Claudia Cavadas

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O6

Content type: Oral presentation Published on: 11 November 2015
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Investigation of pathomechanisms of ventricular arrhythmias in cardiac laminopathies

Authors: Antoine Muchir

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O7

Content type: Oral presentation Published on: 11 November 2015
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New therapeutic approaches to HGPS based on progerin inhibition

Authors: Camilla Pellegrini

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O8

Content type: Oral presentation Published on: 11 November 2015
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Efficient progerin clearance through autophagy induction and SRSF-1 downregulation in Hutchinson-Gilford Progeria Syndrome

Authors: Karim Harhouri

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O9

Content type: Oral presentation Published on: 11 November 2015
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Impairment of Lamin A/C-Polycomb crosstalk as a possible epigenetic cause of Emery Dreifuss Muscular Dystrophy (EDMD)

Authors: Chiara Lanzuolo

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O10

Content type: Oral presentation Published on: 11 November 2015
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Gene Therapy for LMNA-related Congenital Muscular Dystrophy (L-CMD) by Trans-Splicing

Authors: Feriel Azibani and Anne T Bertrand

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O11

Content type: Oral presentation Published on: 11 November 2015
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Chromatin dynamics and in vitro biomarkers in laminopathies: an overview

Authors: Giovanna Lattanzi

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O12

Content type: Oral presentation Published on: 11 November 2015
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LMNA p.R482W mutation related to FPLD2 alters SREBP1-A type lamin interactions in human fibroblasts and adipose stem cells

Authors: Brigitte Buendia

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O13

Content type: Oral presentation Published on: 11 November 2015
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Altered cytokine profiles in laminopathic patients

Authors: Pia Bernasconi

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O14

Content type: Oral presentation Published on: 11 November 2015
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microRNA deregulation in Hutchinson-Gilford Progeria

Authors: Patrice Roll

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O15

Content type: Oral presentation Published on: 11 November 2015
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Update of Emerinopathies’ clinical-genetic spectrum: the French network experience

Authors: France Leturcq and Rabah Ben Yaou

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O16

Content type: Oral presentation Published on: 11 November 2015
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Emerin oligomerisation properties, impact on lamin and actin recognition

Authors: Isaline Herrada and Sophie Zinn-Justin

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O17

Content type: Oral presentation Published on: 11 November 2015
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FHL1 protein isoforms in Emery-Dreifuss muscular dystrophy

Authors: Esma Ziat and Anne T Bertrand

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O18

Content type: Oral presentation Published on: 11 November 2015
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LMNA-associated myopathies: the Italian experience in a large cohort of patients

Authors: Lorenzo Maggi

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O19

Content type: Oral presentation Published on: 11 November 2015
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Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

Authors: Saida Ortolano

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O20

Content type: Oral presentation Published on: 11 November 2015
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Irisin levels in LMNA-mutated lipodystrophic syndromes

Authors: Faiza Bensmaine and Marie-Christine Vantyghem

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O21

Content type: Oral presentation Published on: 11 November 2015
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The nuclear lamina during human spermiogenesis

Authors: Michael Mitchell

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O22

Content type: Oral presentation Published on: 11 November 2015
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Laminopathies: clinical presentations and management

Authors: Raoul CM Hennekam

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O23

Content type: Oral presentation Published on: 11 November 2015
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Management of congenital muscular dystrophies related to defects in the LMNA gene

Authors: Susana Quijano-Roy and Adele D'Amico

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O24

Content type: Oral presentation Published on: 11 November 2015
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Cardiac involvement in laminopathies

Authors: Giuseppe Boriani, Elena Biagini, Karim Wahbi and Denis Duboc

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O25

Content type: Oral presentation Published on: 11 November 2015
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Advances in muscle imaging for Emery-Dreifuss muscular dystrophy

Authors: Nicola Carboni

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O26

Content type: Oral presentation Published on: 11 November 2015
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Metreleptin therapy in LMNA-linked lipodystrophies

Authors: Camille Vatier and Corinne Vigouroux

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O27

Content type: Oral presentation Published on: 11 November 2015
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Round Table: Discussion with families and lay associations

Authors: Tiziana Mongini and Alessandra Gambineri

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O28

Content type: Oral presentation Published on: 11 November 2015
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Utility of patients’ registries to gather clinical, epidemiological and molecular information

Authors: Gaëlle Blandin and Christophe Béroud

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O29

Content type: Oral presentation Published on: 11 November 2015
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Clinical aspects of cardiolaminopathies and prospects for a cardiolaminopathy registry

Authors: Sara Benedetti

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O30

Content type: Oral presentation Published on: 11 November 2015
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A common French-Italian laminopathy registry – update & future prospects

Authors: Gisèle Bonne and Rabah Ben Yaou

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O31

Content type: Oral presentation Published on: 11 November 2015
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ECLip-the European consortium on lipodystrophies: an update

Authors: David Araújo-Vilar

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O32

Content type: Oral presentation Published on: 11 November 2015
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Which support from the French Foundation of rare disease towards clinical trial set up in rare diseases?

Authors: Luigi Ravagnan

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O33

Content type: Oral presentation Published on: 11 November 2015
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Applications of the PMO platform to genetic diseases

Authors: Ryszard Kole

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 2):O34

Content type: Oral presentation Published on: 11 November 2015
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Proceedings of the 1st French-Italian meeting on laminopathies and other nuclear envelope-related diseases

Meeting abstracts

An overview of new translational, clinical and therapeutic perspectives in laminopathies and other nuclear envelope-related diseases.

Molecular mechanisms of normal and pathological aging

Pluripotent stem cells for pathological modelling of Hutchinson-Gilford Progeria Syndrome (HGPS) and drug discovery

Development of a SMCs model from HGPS-iPS and proofs of principle

3D culture system of muscle precursor cell to reveal mechanosensing defects in nuclear envelope related disorders

Prelamin accumulation in primary endothelial cells induces premature senescence and activation

Hypothalamic involvement in premature aging laminopathies

Investigation of pathomechanisms of ventricular arrhythmias in cardiac laminopathies

New therapeutic approaches to HGPS based on progerin inhibition

Efficient progerin clearance through autophagy induction and SRSF-1 downregulation in Hutchinson-Gilford Progeria Syndrome

Impairment of Lamin A/C-Polycomb crosstalk as a possible epigenetic cause of Emery Dreifuss Muscular Dystrophy (EDMD)

Gene Therapy for LMNA-related Congenital Muscular Dystrophy (L-CMD) by Trans-Splicing

Chromatin dynamics and in vitro biomarkers in laminopathies: an overview

LMNA p.R482W mutation related to FPLD2 alters SREBP1-A type lamin interactions in human fibroblasts and adipose stem cells

Altered cytokine profiles in laminopathic patients

microRNA deregulation in Hutchinson-Gilford Progeria

Update of Emerinopathies’ clinical-genetic spectrum: the French network experience

Emerin oligomerisation properties, impact on lamin and actin recognition

FHL1 protein isoforms in Emery-Dreifuss muscular dystrophy

LMNA-associated myopathies: the Italian experience in a large cohort of patients

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

Irisin levels in LMNA-mutated lipodystrophic syndromes

The nuclear lamina during human spermiogenesis

Laminopathies: clinical presentations and management

Management of congenital muscular dystrophies related to defects in the LMNA gene

Cardiac involvement in laminopathies

Advances in muscle imaging for Emery-Dreifuss muscular dystrophy

Metreleptin therapy in LMNA-linked lipodystrophies

Round Table: Discussion with families and lay associations

Utility of patients’ registries to gather clinical, epidemiological and molecular information

Clinical aspects of cardiolaminopathies and prospects for a cardiolaminopathy registry

A common French-Italian laminopathy registry – update & future prospects

ECLip-the European consortium on lipodystrophies: an update

Which support from the French Foundation of rare disease towards clinical trial set up in rare diseases?

Applications of the PMO platform to genetic diseases

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