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Molecular Mechanisms Programme | Obesity

Thyroid and Metabolic Diseases Unit (UETeM)

David Araujo-Vilar
David Araujo-Vilar
Professor of Medicine
david.araujo@usc.es
 
Field of knowledge

The UETeM is a multidisciplinary group dedicated to the study of rare lipodystrophies, progeroid syndromes, and severe insulin resistance syndromes. Founded in 2003 by Professors Lado-Abeal and Araújo-Vilar, its focus lies on both the clinical and molecular aspects of these disorders, which belong to the group of ultra-rare diseases. The team includes clinical endocrinologists, biochemists, pharmacists, and biotechnologists.

Areas of interest:

  • Etiopathogenesis of genetic lipodystrophies
  • Neurodegeneration
  • Aging mechanisms
  • New genes discovery
  • New treatments of lipodystrophies, progerias and insulin resistance syndromes 
     

Research Lines

  • Line 1:  Pathogenic mechanisms of neurodegeneration of seipinopathies
  • Line 2: Mechanisms of adipose tissue dysfunction in lipodystrophy syndromes
  • Line 3: New clinical diagnostic tools in lipodystrophy syndromes
  • Line 4: Use of IA for the diagnosis of lipodystrophy syndromes
  • Line 5: Role of non coding RNAs in the pathogenesis of lipodystrophy syndromes
  • Line 6: New therapeutic approaches in severe insulin resistance syndromes
  • Line 7: Murine models of generalized lipodystrophy
     

Members

Photo group member
Álvaro Hermida Ameijeiras
Associate professor
alvaro.hermida@usc.es
Antia Fernandez
Antía Fernandez-Pombo
Post-doctoral investigator
antiafpombo@gmail.com
Photo group member
Antón Cruces Sande
Research Associate
anton.cruces@usc.es
Sofía Sánchez
Sofía Sánchez Iglesias
Assistant professor
sofia.sanchez@usc.es

 

Everardo José Díaz López
PhD student
Teresa Prado Moraña
PhD student
Laura Rodríguez Sobrino
PhD student

Selected publications

Epidemiological and clinical data from the European Lipodystrophy Registry

Ceccarini G, Vatier C, Akinci B, Belalem I, Broekema M, Csajbok E, Rosaria D'Apice M, Gambineri A, Heldt K, Heni M, Kleinendorst L, Krause K, Lattanzi G, Miehle K, Palladino L, Prodam F, Santini F, Santos Silva E, Savage DB, Sbraccia P, Scherer T, Sorkina E, Štotl I, Vantyghem MC, Vigouroux C, Vorona E, Araújo-Vilar D, Wabitsch M, Nagel G, von Schnurbein J; ECLip Registry Consortium
Eur J Endocrinol. 2025 Oct 30;193(5):685-703

Lipodystrophy Severity Score to Assess Disease Burden in Lipodystrophy.

Brown RJ, Akinci B, Yosef M, Phillips H, Khalatbari S, Sorkina E, Santini F, Vigouroux C, Brush M, Meral R, Ceccarini G, Zeybel M, Prodam F, von Schnurbein J, Sorice GP, Guler MC, Patni N, Tanrikulu S, Alyaarubi S, Ozgen BS, Foss-Freitas MC, Ozisik S, Segrestin B, Ozcan B, Adiyaman SC, Musolino G, Sekizkardes H, Musso C, Lebenthal Y, Ozen S, Simha V, Simsir IY, Stears A, Scherer T, Gambineri A, Lima JG, Semple R, Wabitsch M, Araujo-Vilar D, Hegele RA, Oral EA
J Clin Endocrinol Metab. 2025 Oct 16;110(11):3243-3255.

A cohort analysis of familial partial lipodystrophy from two Mediterranean countries

Fernández-Pombo A, Yildirim Simsir I, Sánchez-Iglesias S, Ozen S, Castro AI, Atik T, Loidi L, Onay H, Prado-Moraña T, Adiyaman C, Díaz-López EJ, Altay C, Ginzo-Villamayor MJ, Akinci B, Araújo-Vilar D
Diabetes Obes Metab. 2024 Nov;26(11):4875-4886

Effect of β-Estradiol on Adipogenesis in a 3T3-L1 Cell Model of Prelamin A Accumulation.

Cobelo-Gómez S, Sánchez-Iglesias S, Fernández-Pombo A, Araújo-Vilar D
Int J Mol Sci. 2024 Jan 20;25(2):1282

Clinical Characteristics of Patients With Acquired Partial Lipodystrophy: A Multicenter Retrospective Study 

Magno S, Ceccarini G, Corvillo F, Pelosini C, Gilio D, Paoli M, Fornaciari S, Pandolfo G, Sanchez-Iglesias S, Nozal P, Curcio M, Sessa MR, López-Trascasa M, Araújo-Vilar D, Santini F
J Clin Endocrinol Metab. 2024 Feb 20;109(3):e932-e944.

Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain

Fernández-Pombo A, Sánchez-Iglesias S, Castro-Pais AI, Ginzo-Villamayor MJ, Cobelo-Gómez S, Prado-Moraña T, Díaz-López EJ, Casanueva FF, Loidi L, Araújo-Vilar D
Front Endocrinol (Lausanne). 2023 Nov 16;14:1250203

A murine model of BSCL2-associated Celia's encephalopathy

Cobelo-Gómez S, Sánchez-Iglesias S, Rábano A, Senra A, Aguiar P, Gómez-Lado N, García-Varela L, Burgueño-García I, Lampón-Fernández L, Fernández-Pombo A, Díaz-López EJ, Prado-Moraña T, San Millán B, Araújo-Vilar D
Neurobiol Dis. 2023 Oct 15;187:106300

Characterization and Clinical Association of Autoantibodies Against Perilipin 1 in Patients With Acquired Generalized Lipodystrophy.

Corvillo F, Abel BS, López-Lera A, Ceccarini G, Magno S, Santini F, Araújo-Vilar D, Brown RJ, Nozal P, López-Trascasa M
Diabetes. 2023 Jan 1;72(1):71-84.

European lipodystrophy registry: background and structure

von Schnurbein J, Adams C, Akinci B, Ceccarini G, D'Apice MR, Gambineri A, Hennekam RCM, Jeru I, Lattanzi G, Miehle K, Nagel G, Novelli G, Santini F, Santos Silva E, Savage DB, Sbraccia P, Schaaf J, Sorkina E, Tanteles G, Vantyghem MC, Vatier C, Vigouroux C, Vorona E, Araújo-Vilar D, Wabitsch M
Orphanet J Rare Dis. 2020 Jan 15;15(1):17

Does Seipin Play a Role in Oxidative Stress Protection and Peroxisome Biogenesis? New Insights from Human Brain Autopsies

Sanchez-Iglesias, S; Fernandez-Liste, A; Guillin-Amarelle, C; Rabano, A; Rodriguez-Canete, L; Gonzalez-Mendez, B; Fernandez-Pombo, A; Senra, A; Araujo-Vilar, D
NEUROSCIENCE, 2019 Jan 1;396:119-137

Diagnosis and treatment of lipodystrophy: a step-by-step approach

Araujo-Vilar, D; Santini, F
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 2019 Jan;42(1):61-73
Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy
Araujo-Vilar, David; Domingo-Jimenez, Rosario; Ruibal, Alvaro; Aguiar, Pablo; Ibanez-Mico, Salvador; Garrido-Pumar, Miguel; Angel Martinez-Olmos, Miguel; Lopez-Soler, Concepcion; Guillin-Amarelle, Cristina; Gonzalez-Rodriguez, Maria; Rodriguez-Nunez, Antonio; Alvarez-Escudero, Julian; Linares-Paz, Mercedes; Gonzalez-Mendez, Blanca; Rodriguez-Garcia, Silvia; Sanchez-Iglesias, Sofia
EUROPEAN JOURNAL OF HUMAN GENETICS, 2018 Mar; 26 (3): 396-406
The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline.
Brown RJ, Araujo-Vilar D, Cheung PT, Dunger D, Garg A, Jack M, Mungai L, Oral EA, Patni N, Rother KI, von Schnurbein J, Sorkina E, Stanley T, Vigouroux C, Wabitsch M, Williams R, Yorifuji T.
J Clin Endocrinol Metab. , 2016 Dec;101(12):4500-4511.

Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience

Araujo-Vilar D, Sánchez-Iglesias S, Guillín-Amarelle C, Castro A, Lage M, Pazos M, Rial JM, Blasco J, Guillén-Navarro E, Domingo-Jiménez R, del Campo MR, González-Méndez B, Casanueva FF
Endocrine. 2015 May;49(1):139-47

A new seipin-associated neurodegenerative syndrome

Guillén-Navarro E, Sánchez-Iglesias S, Domingo-Jiménez R, Victoria B, Ruiz-Riquelme A, Rábano A, Loidi L, Beiras A, González-Méndez B, Ramos A, López-González V, Ballesta-Martínez MJ, Garrido-Pumar M, Aguiar P, Ruibal A, Requena JR, Araújo-Vilar D
J Med Genet. 2013 Jun;50(6):401-9

Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy

Araújo-Vilar D, Lattanzi G, González-Méndez B, Costa-Freitas AT, Prieto D, Columbaro M, Mattioli E, Victoria B, Martínez-Sánchez N, Ramazanova A, Fraga M, Beiras A, Forteza J, Domínguez-Gerpe L, Calvo C, Lado-Abeal J
 J Med Genet. 2009 Jan;46(1):40-8

Selected Results

Alliances

ECLIP_Logo
European Consortium of Lipodystrophies (ECLip)

Patents

Transgenic non-human models for lipodystrophy and/or PELD
Application Nº: EP19382828
Araujo-Vilar D., Sánchez Iglesias S.
Lipo-DDx
Application Nº: 03/2019/1209
Stellum-MMg
Application Nº: 1996-15-21271