Vincent Marion
French Institute of Health and Medical Research
CiliumGeneExomeInternal medicinePhenotypeEndocrinologyPathologyExome sequencingChemistryBBS12ZebrafishPolydactylyArginineAlström syndromeDiseaseInsulinBBS10KidneyCiliopathyRetinalRetinal degenerationRetinitis pigmentosaBardet–Biedl syndromeCiliopathiesMutationGeneticsGenetic heterogeneityMedicineMissense mutationBiologyCell biology
Publications 44
#1Tarekegn Geberhiwot (University of Birmingham)H-Index: 19
#2Shanat Baig (University of Birmingham)H-Index: 9
Last. Vincent Marion (National Health Service)H-Index: 1
view all 14 authors...
Obesity is a major risk factor for insulin resistance (IR) and its attendant complications. The pathogenic mechanisms linking them remain poorly understood, partly due to a lack of intermediary monogenic human phenotypes. Here, we report on a monogenic form of IR-prone obesity, Alstrom syndrome (ALMS). Twenty-three subjects with monogenic or polygenic obesity underwent hyperinsulinaemic-euglycemic clamping with concomitant adipose tissue (AT) microdialysis and an in-depth analysis of subcutaneou...
4 CitationsSource
#1Natascia Tahani (University Hospitals Birmingham NHS Foundation Trust)H-Index: 1
#2Pietro Maffei (UNIPD: University of Padua)H-Index: 27
Last. Tarekegn Geberhiwot (University of Birmingham)H-Index: 19
view all 23 authors...
Alstrom Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13. ALMS is a multisystem, progressive disease characterised by visual disturbance, hearing impairment, cardiomyopathy, childhood obesity, extreme insulin resistance, accelerated non-alcoholic fatty liver disease (NAFLD), renal dysfunction, respiratory disease, endocrine and urologic disorders. Clinical symptoms first appear in infancy w...
8 CitationsSource
#1Marco BassettoH-Index: 1
#2Daniel Roberto Ajoy Moreno (UDS: University of Strasbourg)
Last. Olivier ZelphatiH-Index: 14
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#1Daniel Roberto Ajoy Moreno (UDS: University of Strasbourg)
Last. Vincent Marion (UDS: University of Strasbourg)H-Index: 19
view all 8 authors...
#1Agnès Brun (UDS: University of Strasbourg)H-Index: 1
#2Xiangxiang Yu (UDS: University of Strasbourg)H-Index: 1
Last. Vincent Marion (UDS: University of Strasbourg)H-Index: 19
view all 10 authors...
Abstract Cilia are highly conserved and ubiquitously expressed organelles. Ciliary defects of genetic origins lead to ciliopathies, in which retinal degeneration (RD) is one cardinal clinical feature. In order to efficiently find and design new therapeutic strategies the underlying mechanism of retinal degeneration of three murine model was compared. The rodent models correspond to three emblematic ciliopathies, namely: Bardet-Biedl Syndrome (BBS), Alstrom Syndrome (ALMS) and CEP290-mediated Leb...
4 CitationsSource
Studying rare genetic disorders, associating type 2 diabetes, is a valuable approach to decipher disease origins as a specific causal gene can be linked to the diabetic phenotype. Understanding the related protein functions favors the discovery of new pathways, hence the design of new therapies. We focused on an ultra-rare genetic disorder, the Alstrom syndrome, associated with severe early-onset type 2 diabetes, obesity, steatosis and generalized fibrosis and for which a unique gene is consiste...
#1Miriam ZacchiaH-Index: 15
#2Giovanna CapolongoH-Index: 10
Last. Vincent Marion (French Institute of Health and Medical Research)H-Index: 19
view all 4 authors...
Bardet Biedl syndrome (BBS) is a rare inherited syndromic condition characterized by renal and extra-renal disorders. Renal defect, at either structural or functional level, is one of the cardinal clinical features, and is a major cause of morbidity. However, the pathogenic mechanism underlying its dysfunction remains largely unknown, and to date only symptomatic treatment with no specific therapy is available for these patients. Elucidating aberrant cellular and/or systemic processes that impac...
5 CitationsSource
#2Cathy ObringerH-Index: 4
Last. Vincent MarionH-Index: 19
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#1J.-J. BraunH-Index: 3
#2Vincent Noblet (CNRS: Centre national de la recherche scientifique)H-Index: 17
Last. Sophie Riehm (UDS: University of Strasbourg)H-Index: 13
view all 9 authors...
Olfactory bulb (OB) volume evaluation by magnetic resonance imaging (MRI) has been demonstrated to be related to olfactory dysfunction in many different diseases. Olfactory dysfunction is often overlooked in Bardet−Biedl syndrome (BBS) patients and is rarely objectively evaluated by MRI. We present a series of 20 BBS patients with olfactory dysfunction. The OB was evaluated separately and blindly by two radiologists (SR and SM) with 3 Tesla MRI imaging comparatively to 12 normal control subjects...
8 CitationsSource
#1J De Craene (UDS: University of Strasbourg)
#2Séverine Bär (UDS: University of Strasbourg)H-Index: 7
Last. Sylvie Friant (UDS: University of Strasbourg)H-Index: 21
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Many human diseases are linked to mutations in genes encoding membrane trafficking proteins, among them the X-linked centronuclear myopathy (XLCNM) and ciliopathies. We use yeast Saccharomyces cerevisiae as a model system to study these human disease trafficking genes. It is a good model because yeast and human cells present similar intracellular organization and its membrane trafficking and metabolism are well characterized. We first studied the MTM1 gene, responsible for XLCNM, which codes for...