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; 25(2): 1282.
doi: 10.3390/ijms25021282


Clinical characterisation and comorbidities of acquired generalised lipodystrophy: a 14-year follow-up study
Fernandez-Pombo A, Prado-Moraña T, Diaz-Lopez EJ, Sanchez-Iglesias S, Castro AI, Cobelo-Gomez S, Araujo-Vilar D.
J Clin Med. 2023; 12(23): 7344.
doi: 10.3390/jcm12237344


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. 2023; dgad700.
doi: 10.1210/clinem/dgad700


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; 14: 1250203.
doi: 10.3389/fendo.2023.1250203


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; 187: 106300.
doi: 10.1016/j.nbd.2023.106300


Increased musculature: A warning sign of familial partial lipodystrophy
Araujo-Vilar D, Fernández-Pombo A, Cobelo-Gómez S, Castro AI, Sánchez-Iglesias S.
Endocrinol Diabetes Nutr (Engl Ed). 2023; 70(4): 290-292.
doi: 10.1016/j.endien.2023.03.02


Clinical spectrum of LMNA-associated type 2 familial partial lipodystrophy: a systematic review
Fernandez-Pombo A, Diaz-Lopez EJ, Castro AI, Sanchez-Iglesias S, Cobelo-Gomez S, Prado-Moraña T, Araujo-Vilar D.
Cells. 2023; 12(5): 725. Review.
doi: 10.3390/cells12050725


Lipodystrophy-associated progeroid syndromes
Araújo-Vilar D, Fernández-Pombo A, Cobelo-Gómez S, Castro A, Sánchez-Iglesias S
Hormones (Athens) 2022; 21(4): 555-571. 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 autopsies
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