Lipodystrophy-associated progeroid syndromes.
Araújo-Vilar D, Fernández-Pombo A, Cobelo-Gómez S, Castro A, Sánchez-Iglesias S
Hormones (Athens) 2022. Review.
doi: 10.1007/s42000-022-00386-7



Familial partial lipodystrophy syndromes.
Fernández-Pombo A, Sánchez-Iglesias S, Cobelo-Gómez S, Hermida-Ameijeiras A, Araújo-Vilar D.
Presse Med. 2021; 50(3): 104071. Review.
doi: 10.1016/j.lpm.2021.104071



Variable expressivity and allelic heterogeneity in type 2 Familial partial lipodystrophy: the p.(Thr528Met) LMNA variant.
Araújo-Vilar D, Fernández-Pombo A, Victoria-Martínez B, Mosquera-Orgueira A, Cobelo-Gómez S, Castro-Pais A, Hermida-Ameijeiras A, Loidi L, Sánchez-Iglesias S.
J. Clin. Med. 2021; 10(7): 1497.
doi: 10.3390/jcm10071497

 

Celia's encephalopathy (BSCL2-gene-related): current understanding.
Sánchez-Iglesias S, Fernández-Pombo A, Cobelo-Gómez S, Hermida-Ameijeiras A, Alarcón-Martínez H, Domingo-Jiménez R, Ruíz-Riquelme A.I., Requena J.R., Araújo-Vilar D.
J. Clin. Med. 2021; 10(7): 1435. Review.
doi: 10.3390/jcm10071435



Variable expressivity in type 2 Familial partial lipodystrophy related to R482 and N466 variants in the LMNA gene.
Araújo-Vilar D, Sánchez-Iglesias S, Castro A.I., Cobelo-Gómez S, Hermida-Ameijeiras H, Rodríguez-Carnero G, Casanueva F.F., Fernández-Pombo A
J. Clin. Med. 2021; 10(6): 1259.
doi: 10.3390/jcm10061259
 
 

Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.
Sánchez-Iglesias S, Fernández-Pombo A, Araújo-Vilar D.
Neurol Sci. 2021; 42(4): 1597-1598.
doi: 10.1007/s10072-020-04780-0



LipoDDx: a mobile application for identification of rare lipodystrophy syndromes.
Araújo-Vilar D, Fernández-Pombo A, Rodríguez-Carnero G, Martínez-Olmos MÁ, Cantón A, Villar-Taibo R, Hermida-Ameijeiras Á, Santamaría-Nieto A, Díaz-Ortega C, Martínez-Rey C, Antela A, Losada E, Muy-Pérez AE, González-Méndez B, Sánchez-Iglesias S.
Orphanet J Rare Dis. 2020; 15(1): 81.
doi: 10.1186/s13023-020-01364-1



Immunological features of patients affected by Barraquer-Simons syndrome.
Corvillo F, Ceccarini G, Nozal P, Magno S, Pelosini C, Garrido S, López-Lera A, Moraru M, Vilches C, Fornaciari S, Gabbriellini S, Santini F, Araújo-Vilar D, López-Trascasa M.
Orphanet J Rare Dis. 2020; 15(1): 9.
doi: 10.1186/s13023-019-1292-1


Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation.
Fernández-Pombo A, Cameselle-Teijeiro JM, Puñal-Rodríguez JA, Loidi L, Peinó-García R, Cabanas-Rodríguez P, Garrido-Pumar M, Baleato-González S, Flores-Ríos E, Araújo-Vilar D.
Case Rep Endocrinol. 2019: 2502174.
doi: 10.1155/2019/2502174


[Hyperpigmented macula: An adverse reaction of treatment with metreleptin].
Araújo-Vilar D, Quinteiro S, Fernández-Pompo A, Sánchez-Iglesias S.
An Pediatr (Barc). 2019; pii: S1695-4033(19)30294-2.
doi: 10.1016/j.anpedi.2019.09.014


Altered adipocyte differentiation and unbalanced autophagy in type 2 Familial Partial Lipodystrophy: an in vitro and in vivo study of adipose tissue browning.
Pellegrini C, Columbaro M, Schena E, Prencipe S, Andrenacci D, Iozzo P, Angela Guzzardi M, Capanni C, Mattioli E, Loi M, Araujo-Vilar D, Squarzoni S, Cinti S, Morselli P, Giorgetti A, Zanotti L, Gambineri A, Lattanzi G.
Exp Mol Med. 2019; 51(8): 1-17.
doi: 10.1038/s12276-019-0289-0


A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy.
Fernández-Marmiesse A, Sánchez-Iglesias S, Darling A, O'Callaghan MM, Tonda R, Jou C, Araújo-Vilar D.
Seizure. 2019; 71: 161-165.
doi: 10.1016/j.seizure.2019.07.019


Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.
Sánchez-Iglesias S, Crocker M, O'Callaghan M, Darling A, García-Cazorla A, Domingo-Jiménez R, Castro A, Fernández-Pombo A, Ruibal Á, Aguiar P, Garrido-Pumar M, Rodríguez-Núñez A, Álvarez-Escudero J, Brown RJ, Araújo-Vilar D.
Neurogenetics. 2019; 20(2): 73-82
doi: 10.1007/s10048-019-00574-5



Long-term effectiveness and safety of metreleptin in the treatment of patients with partial lipodystrophy.
Oral EA, Gorden P, Cochran E, Araújo-Vilar D, Savage DB, Long A, Fine G, Salinardi T, Brown RJ.
Endocrine. 2019; 64(3): 500-511
doi: 10.1007/s12020-019-01862-8.


Laminopathies.
Lattanzi G, Maggi L, Araújo-Vilar D.
Nucleus. 2019; 9: 543-544.
doi: 10.1080/19491034.2018.1515606


Does seipin play a role in oxidative stress protection and peroxisome biogenesis? New insights from human brain utopsies.
Sánchez-Iglesias S, Fernández-Liste A, Guillín-Amarelle C, Rábano A, Rodriguez-Cañete L, González-Méndez B, Fernández-Pombo A, Senra A, Araújo-Vilar D.
Neuroscience. 2019; 396: 119-137.
doi: 10.1016/j.neuroscience.2018.11.004


Diagnosis and treatment of lipodystrophy: a step-by-step approach.
Araújo-Vilar D, Santini F.
J Endocrinol Invest. 2019; 42(1): 61-73.
doi: 10.1007/s40618-018-0887-z.

Autoantibodies against Perilipin 1 as a cause of acquired generalized lipodystrophy.
Corvillo F, Aparicio V, López-Lera A, Garrido S, Araújo-Vilar D, de Miguel MP, López-Trascasa M.
Front Immunol. 2018;9: 2142.
doi: 10.3389/fimmu.2018.02142.

Inflammatory myopathy in the context of an unusual overlapping laminopathy.

Guillín-Amarelle C, Sánchez-Iglesias S, Mera A, Pintos E, Castro-Pais A, Rodríguez-Cañete L, Pardo J, Casanueva FF, Araújo-Vilar D.
Arch Endocrinol Metab. 2018 Jun;62(3):376-382.
doi: 10.20945/2359-3997000000048.


Long-term effectiveness and safety of metreleptin in the treatment of patients with generalized lipodystrophy.

Brown RJ, Oral EA, Cochran E, Araújo-Vilar D, Savage DB, Long A, Fine G, Salinardi T, Gorden P.
Endocrine. 2018; 60(3): 479-489.
doi: 10.1007/s12020-018-1589-1.

Lipodystrophic laminopathies: Diagnostic clues.

Guillín-Amarelle C, Fernández-Pombo A, Sánchez-Iglesias S, Araújo-Vilar D.
Nucleus. 2018; 9(1): 249-260.
doi: 10.1080/19491034.2018.1454167.

Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy.

Araújo-Vilar D, Domingo-Jiménez R, Ruibal Á, Aguiar P, Ibáñez-Micó S, Garrido-Pumar M, Martínez-Olmos MÁ, López-Soler C, Guillín-Amarelle C, González-Rodríguez M, Rodríguez-Núñez A, Álvarez-Escudero J, Liñares-Paz M, González-Méndez B, Rodríguez-García S, Sánchez-Iglesias S.
Eur J Hum Genet. 2018; 26(3): 396-406.
doi: 10.1038/s41431-017-0052-8.

Bone mineral density in familial partial lipodystrophy.

Fernández-Pombo A, Ossandon-Otero JA, Guillín-Amarelle C, Sánchez-Iglesias S, Castro AI, González-Méndez B, Rodríguez-García S, Rodriguez-Cañete L, Casanueva FF, Araújo-Vilar D.
Clin Endocrinol (Oxf). 2018; 88(1): 44-50.
doi: 10.1111/cen.13504.

Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges.

Chiquette E, Oral EA, Garg A, Araújo-Vilar D, Dhankhar P.
Diabetes Metab Syndr Obes. 2017; 10: 375-383.
doi: 10.2147/DMSO.S130810.

[Acantosis nigricans in severe insulin resistance syndromes].
Araújo-Vilar D, Barreiro J, Sánchez-Iglesias S, Guillín-Amarelle C.
An Pediatr (Barc). 2017; 86(3): 166-168.
doi: 10.1016/j.anpedi.2016.01.003.

LMNA missense mutations causing familial partial lipodystrophy do not lead to an accumulation of prelamin A.

Tu Y, Sánchez-Iglesias S, Araújo-Vilar D, Fong LG, Young SG.
Nucleus. 2016; 7(5): 512-521.
doi: 10.1080/19491034.2016.1242542.

Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome.
Guillín-Amarelle C, Sánchez-Iglesias S, Castro-Pais A, Rodriguez-Cañete L, Ordóñez-Mayán L, Pazos M, González-Méndez B, Rodríguez-García S, Casanueva FF, Fernández-Marmiesse A, Araújo-Vilar D.
Endocrine. 2016; 54(2): 411-421.
doi: 10.1007/s12020-016-1002-x.

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; 101(12): 4500-4511.
doi: 10.1210/jc.2016-2466.

An uncommon association of Familial partial lipodystrophy, dilated cardiomyopathy, and conduction system disease.

Panikkath R, Panikkath D, Sanchez-Iglesias S, Araujo-Vilar D, Lado-Abeal J.
J Investig Med High Impact Case Rep. 2016; 4(3): 2324709616658495.
doi: 10.1177/2324709616658495.

Clinical utility gene card for: Familial partial lipodystrophy.

Jéru I, Vatier C, Araujo-Vilar D, Vigouroux C, Lascols O.
Eur J Hum Genet. 2017; 25(2).
doi: 10.1038/ejhg.2016.102.

Skipped BSCL2 transcript in Celia's encephalopathy (PELD): New insights on fatty acids involvement, senescence and adipogenesis.
Sánchez-Iglesias S, Unruh-Pinheiro A, Guillín-Amarelle C, González-Méndez B, Ruiz-Riquelme A, Rodríguez-Cañete BL, Rodríguez-García S, Guillén-Navarro E, Domingo-Jiménez R, Araújo-Vilar D.
PLoS One. 2016; 11(7): e0158874.
doi: 10.1371/journal.pone.0158874.

Clinical utility gene card for: Congenital generalized lipodystrophy.

Jéru I, Vatier C, Araujo-Vilar D, Vigouroux C, Lascols O.
Eur J Hum Genet. 2016; 24(11).
doi: 10.1038/ejhg.2016.53.

Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease.

Ruiz-Riquelme A, Sánchez-Iglesias S, Rábano A, Guillén-Navarro E, Domingo-Jiménez R, Ramos A, Rosa I, Senra A, Nilsson P, García Á, Araújo-Vilar D, Requena JR.
Neurobiol Dis. 2015; 83:44-53.
doi: 10.1016/j.nbd.2015.08.006.

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; 49(1): 139-47.
doi: 10.1007/s12020-014-0450-4.

[Uncommon lipodystrophic syndromes].
Guillín-Amarelle C, Sánchez-Iglesias S, Araújo-Vilar D.
Med Clin (Barc). 2015; 144(2): 80-7.
doi: 10.1016/j.medcli.2014.02.024.


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; 50(6): 401-9.
doi: 10.1136/jmedgenet-2013-101525.

Axonal neuropathy, long limbs and bumpy tongue: think of MEN2B.

Ramos-Leví AM, Díaz-Pérez A, Sobrido MJ, Piñeiro-Hermida S, Blanco-Arias P, Cabezas-Agrícola JM, Pascual-Pascual SI, Araújo-Vilar D.
Muscle Nerve. 2012; 46(6): 961-4.
doi: 10.1002/mus.23466.

Histological and molecular features of lipomatous and nonlipomatous adipose tissue in familial partial lipodystrophy caused by LMNA mutations.

Araújo-Vilar D, Victoria B, González-Méndez B, Barreiro F, Fernández-Rodríguez B, Cereijo R, Gallego-Escuredo JM, Villarroya F, Pañeda-Menéndez A.
Clin Endocrinol (Oxf). 2012; 76(6): 816-24.
doi: 10.1111/j.1365-2265.2011.04208.x.

[Clinical and molecular study of five families with resistance to thyroid hormones].

Lado Abeal J, Albero Gamboa R, Araujo Vilar D, Barca Mallo O, Bernabeú Moron I, Calvo MT, Castro Piedras I, Martin Calamata J, Palos Paz F, Peinó R, Peteiro D, Victoria B.
Med Clin (Barc). 2011; 137(12): 551-4.
doi: 10.1016/j.medcli.2010.11.037.

[Congenital generalized lipodystrophy versus Berardinelli-Seip syndrome].

Araújo-Vilar D.
An Pediatr (Barc). 2011; 74(6): 423-4; author reply 424-6.
doi: 10.1016/j.anpedi.2010.12.015.

Severe localized lipoatrophy related to therapy with insulin analogs in type 1a diabetes mellitus.

Peteiro-González D, Fernández-Rodríguez B, Cabezas-Agrícola JM, Araújo-Vilar D.
Diabetes Res Clin Pract. 2011; 91(3): e61-3.
doi: 10.1016/j.diabres.2010.11.026.

Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy.
Victoria B, Cabezas-Agrícola JM, González-Méndez B, Lattanzi G, Del Coco R, Loidi L, Barreiro F, Calvo C, Lado-Abeal J, Araújo-Vilar D.
Diabet Med. 2010; 27(10): 1178-87.
doi: 10.1111/j.1464-5491.2010.03052.x.

Regional decrease of subcutaneous adipose tissue in patients with type 2 familial partial lipodystrophy is associated with changes in thyroid hormone metabolism.

Lado-Abeal J, Calvo RM, Victoria B, Castro I, Obregon MJ, Araujo-Vilar D.
Thyroid. 2010;20(4): 419-24.
doi: 10.1089/thy.2009.0267.

Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.

Parajes S, Loidi L, Reisch N, Dhir V, Rose IT, Hampel R, Quinkler M, Conway GS, Castro-Feijóo L, Araujo-Vilar D, Pombo M, Dominguez F, Williams EL, Cole TR, Kirk JM, Kaminsky E, Rumsby G, Arlt W, Krone N.
J Clin Endocrinol Metab. 2010; 95(2): 779-88.
doi: 10.1210/jc.2009-0651.

Prematurely aged children: molecular alterations leading to Hutchinson-Gilford progeria and Werner syndromes.

Domínguez-Gerpe L, Araújo-Vilar D.
Curr Aging Sci. 2008; 1(3): 202-12.

Severe hypertension and hypokalemia as first clinical manifestations in ectopic Cushing's syndrome.

Fernández-Rodríguez E, Villar-Taibo R, Pinal-Osorio I, Cabezas-Agrícola JM, Anido-Herranz U, Prieto A, Casanueva FF, Araujo-Vilar D.
Arq Bras Endocrinol Metabol. 2008; 52(6): 1066-70.

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; 46(1): 40-8.
doi: 10.1136/jmg.2008.059485.

Prevalence and functional analysis of the S107P polymorphism (rs6647476) of the monocarboxylate transporter 8 (SLC16A2) gene in the male population of north-west Spain (Galicia).

Lago-Lestón R, Iglesias MJ, San-José E, Areal C, Eiras A, Araújo-Vilar D, Lado-Abeal J, Domínguez-Gerpe L.
Clin Endocrinol (Oxf). 2009; 70(4): 636-43.
doi: 10.1111/j.1365-2265.2008.03377.x.

Prevalence of mutations in TSHR, GNAS, PRKAR1A and RAS genes in a large series of toxic thyroid adenomas from Galicia, an iodine-deficient area in NW Spain.

Palos-Paz F, Perez-Guerra O, Cameselle-Teijeiro J, Rueda-Chimeno C, Barreiro-Morandeira F, Lado-Abeal J; Galician Group for the Study of Toxic Multinodular Goitre, Araujo Vilar D, Argueso R, Barca O, Botana M, Cabezas-Agrícola JM, Catalina P, Dominguez Gerpe L, Fernandez T, Mato A, Nuño A, Penin M, Victoria B.
Eur J Endocrinol. 2008; 159(5): 623-31.
doi: 10.1530/EJE-08-0313.

A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy.

Araújo-Vilar D, Lado-Abeal J, Palos-Paz F, Lattanzi G, Bandín MA, Bellido D, Domínguez-Gerpe L, Calvo C, Pérez O, Ramazanova A, Martínez-Sánchez N, Victoria B, Costa-Freitas AT.
Clin Endocrinol (Oxf). 2008 Jul;69(1):61-8.
doi: 10.1111/j.1365-2265.2007.03146.x.

Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.

Palos F, García-Rendueles ME, Araujo-Vilar D, Obregon MJ, Calvo RM, Cameselle-Teijeiro J, Bravo SB, Perez-Guerra O, Loidi L, Czarnocka B, Alvarez P, Refetoff S, Dominguez-Gerpe L, Alvarez CV, Lado-Abeal J.
J Clin Endocrinol Metab. 2008; 93(1): 267-77.
doi: 10.1210/jc.2007-0539.