Lipodystrophy papers of the month

JULY 2024

Circulating exosomal circRNA-miRNA-mRNA network in a familial partial lipodystrophy type 3 family with a novel PPARG frameshift mutation c.418dup

Zhou et al.
Am J Physiol Endocrinol Metab
DOI: 10.1152/ajpendo.00094.2024

Diagnosis, treatment and management of lipodystrophy: the physician perspective on the patient journey

Patni et al.
Orphanet J Rare Dis
DOI: 10.1186/s13023-024-03245-3

The lipid droplet assembly complex consists of seipin and four accessory factors in budding yeast

Wang et al.
J Biol Chem
DOI: 10.1016/j.jbc.2024.107534

Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism

Pannier et al.
Birth Defects Res
DOI: 10.1002/bdr2.2380

PAQR4 regulates adipocyte function and systemic metabolic health by mediating ceramide levels
Zhu et al.
Nat Metab
DOI: 10.1038/s42255-024-01078-9

Case report: two novel PPARG pathogenic variants associated with type 3 familial partial lipodystrophy in Brazil
Alvares da Silva et al.
Diabetol Metab Syndr
DOI: 10.1186/s13098-024-01387-9

Progerin forms an abnormal meshwork and has a dominant-negative effect on the nuclear lamina

Kim et al.
Proc Natl Acad Sci U S A
DOI: 10.1073/pnas.2406946121

Lipodystrophy prevalence, "Lipodystrophy-like phenotypes," and diagnostic challenges
Akinci et al.
DOI: 10.2337/dbi24-0018

Relationship of fat mass ratio, a biomarker for lipodystrophy, with cardiometabolic traits

Agrawal et al.
DOI: 10.2337/db23-0575

JUNE 2024

Identification of ibuprofen targeting CXCR family members to alleviate metabolic disturbance in lipodystrophy based on bioinformatics and in vivo experimental verification

Cao et al.
Front Endocrinol (Lausanne)
DOI: 10.3389/fendo.2024.1414908

Early B-cell transcription factor-2 defect as a novel cause of lipodystrophy: disruption of the adipose tissue character and integrity

Foss-Freitas et al.
DOI: 10.1101/2024.06.24.24309093

A rapid action plan to improve diagnosis and management of lipodystrophy syndromes
Front Endocrinol (Lausanne)
Fourman et al.
DOI: 10.3389/fendo.2024.1383318

Hypertriglyceridemia results from an impaired catabolism of triglyceride-rich lipoproteins in PLIN1-related lipodystrophy
Vergès et al.
Arterioscler Thromb Vasc Biol
DOI: 10.1161/ATVBAHA.124.320774

Comprehensive analysis of morbidity and mortality patterns in familial partial lipodystrophy patients: insights from a population study
Guidorizzi et al.
Front Endocrinol (Lausanne)
DOI: 10.3389/fendo.2024.1359211

An unusual case of acquired generalized lipodystrophy (panniculitis variety)

Hill et al.
Pediatr Dermatol
DOI: 10.1111/pde.15668

A case of mother and child with CANDLE syndrome: Diagnosis and subsequent treatment with baricitinib

Guo et al.
Pediatr Dermatol
DOI: 10.1111/pde.15667

Nuclear lipid droplet: Guardian of nuclear membrane lipid homeostasis?
Curr Opin Cell Biol
DOI: 10.1016/
Dupuis et al.
Ann Endocrinol (Paris)
DOI: 10.1016/j.ando.2024.05.003
Immune checkpoint inhibitors-associated generalized lipodystrophy: reconstructive challenges of an emerging and distinct form of lipodystrophy
Kreutz-Rodrigues et al.
J Craniofac Surg
DOI: 10.1097/SCS.0000000000010409

Hepatic steatosis and its associations with acute and chronic liver diseases
Koenig et al.
Aliment Pharmacol Ther
DOI: 10.1111/apt.18059


Seipin is involved in oxygen-glucose deprivation/reoxygenation induced neuroinflammation by regulating the TLR3/TRAF3/NF-κB pathway
Guo et al.
International Immunopharmacology
DOI: 10.1016/j.intimp.2024.112182
ADH1B, the adipocyte-enriched alcohol dehydrogenase, plays an essential, cell-autonomous role in human adipogenesis
Gautheron et al.
Proc Natl Acad Sci U S A
DOI: 10.1073/pnas.2319301121


MAY 2024

Partial lipodystrophy: Clinical presentation and treatment
Mosbah et al.
Ann Endocrinol (Paris)
DOI: 10.1016/j.ando.2024.05.015

Generalized lipodystrophies: Clinical characterization and physiopathology

Ann Endocrinol (Paris)
DOI: 10.1016/j.ando.2024.05.017
Primary disease of adipose tissue: When to think about and how to evaluate it in clinical practice?
Vatier et al.
Ann Endocrinol (Paris)
DOI: 10.1016/j.ando.2024.05.019

Leptin replacement therapy in the management of lipodystrophy syndromes
Vigouroux et al.
Ann Endocrinol (Paris)
DOI: 10.1016/j.ando.2024.05.022

PPA1 promotes adipogenesis by regulating the stability of C/EBPs
Wu et al.
Cell Death & Differentiation
DOI: 10.1038/s41418-024-01309-2

Seipin deficiency-induced lipid dysregulation leads to hypomyelination-associated cognitive deficits via compromising oligodendrocyte precursor cell differentiation
Cui et al.
Cell Death & Differentiation
DOI: 10.1038/s41419-024-06737-z

OTULIN deficiency: focus on innate immune system impairment
Dou et al.
Front Immunol
DOI: 10.3389/fimmu.2024.1371564

A unifying mechanism for seipin-mediated lipid droplet formation
Klug et al.
DOI: 10.1002/1873-3468.14825

Podocytopathies associated with familial partial lipodystrophy due to LMNA variants: report of two cases
Morguetti et al.
Arch Endocrinol Metab
DOI: 10.20945/2359-4292-2023-0204

Nuclear lipid droplet: Guardian of nuclear membrane lipid homeostasis?
Curr Opin Cell Biol
DOI: 10.1016/

Dysfunctional adipocytes promote tumor progression through YAP/TAZ-dependent cancer-associated adipocyte transformation
Song et al.
Nat Commun
DOI: 10.1038/s41467-024-48179-3

Effects of metreleptin in patients with generalized lipodystrophy before vs after the onset of severe metabolic disease
Brush et al.
J Clin Endocrinol Metab
DOI: 10.1210/clinem/dgae335

Impaired signaling pathways on Berardinelli-Seip congenital lipodystrophy macrophages during Leishmania infantum infection
Nogueira et al.
Sci Rep
DOI: 10.1038/s41598-024-61663-6

APRIL 2024 

GLP-1 receptor agonist improves metabolic disease in a pre-clinical model of lipodystrophy
Roumane et al.
Front Endocrinol (Lausanne)
DOI: 10.3389/fendo.2024.1379228

A novel subtype of acquired generalized lipodystrophy associated with subcutaneous panniculitis-like T-cell lymphoma
Hoff et al.
JCEM Case Rep
DOI: 10.1210/jcemcr/luae069

Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center
Donadille et al.
Orphanet J Rare Dis
DOI: 10.1186/s13023-024-03173-2

Heterogeneity and high prevalence of bone manifestations, and bone mineral density in congenital generalized lipodystrophy subtypes 1 and 2
Freire et al.
Front Endocrinol (Lausanne)
DOI: 10.3389/fendo.2024.1326700

Gestational and neonatal outcomes of women with partial Dunnigan lipodystrophy
Valerio et al.
Front Endocrinol (Lausanne)
DOI: 10.3389/fendo.2024.1359025

Ip3r-Grp75-Vdac and relevant Ca2+ signaling regulate dietary palmitic acid-induced de novo lipogenesis by mitochondria-associated ER membrane (MAM) recruiting Seipin in yellow catfish
Song et al.
J Nutr
DOI: 10.1016/j.tjnut.2024.04.021

Mesenchymal-specific Alms1 knockout in mice recapitulates metabolic features of Alström syndrome
McKay et al.
Mol Metab
DOI: 10.1016/j.molmet.2024.101933
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy
Kopp et al.
Hum Genet
DOI: 10.1007/s00439-024-02669-y

SIRT1 serum concentrations in lipodystrophic syndromes
Salvatori et al.
International Journal of Molecular Sciences
DOI: 10.3390/ijms25094785

MARCH 2024

Regulated regeneration of adipose tissue in lipodystrophic Agpat2-null mice partially ameliorates hepatic steatosis
Agarwal et al.
DOI: 10.1016/j.isci.2024.109517

Further delineation of Wiedemann‐Rautenstrauch syndrome linked with POLR3A

Khan et al.
Mol Genet Genomic Med
DOI: 10.1002/mgg3.2274

Adipose transplantation improves metabolism and atherosclerosis but not PVAT abnormality or vascular dysfunction in lipodystrophic Seipin/Apoe null mice
Meng et al.
Am J Physiol Cell Physiol
DOI: 10.1152/ajpcell.00698.2023

Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
Fu et al.
Front Endocrinol (Lausanne)
DOI: 10.3389/fendo.2024.1345067
Clinicopathological characteristics, treatment and follow-up of lipodystrophia centrifugalis abdominalis infantilis: A retrospective case series in China
Zhao et al.
Australas J Dermatol
DOI: 10.1111/ajd.14203

Mitophagy defect mediates the aging-associated hallmarks in Hutchinson-Gilford progeria syndrome
Sun et al.
Aging Cell
DOI: 10.1111/acel.14143

Rare monogenic causes of steatotic liver disease masquerading as MASLD
Brouwers and Cassiman
J Hepatol
DOI: 10.1016/j.jhep.2024.02.025

Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa
Yaarubi et al.
Orphanet J Rare Dis
DOI: 10.1186/s13023-024-03084-2


The genetic basis of the first patient with Wiedemann-Rautenstrauch syndrome in the Russian Federation

Kovalskaia et al.
Genes (Basel)
DOI: 10.3390/genes15020180
SARS-CoV-2 infection alters the phenotype and gene expression of adipocytes
Quaranta et al.
Int J Mol Sci
DOI: 10.3390/ijms25042086

Defining the progeria phenome
Worm et al.
Aging (Albany NY)
DOI: 10.18632/aging.205537

Serum levels of adiponectin differentiate generalized lipodystrophies from anorexia nervosa
Ceccarini et al.
J Endocrinol Invest
DOI: 10.1007/s40618-024-02308-3

The efficacy and safety of glucagon-like peptide-1 agonists in a retrospective study of patients with familial partial lipodystrophy
Foss-Freitas et al.
Diabetes Care
DOI: 10.2337/dc23-1614


Effect of β-estradiol on adipogenesis in a 3T3-L1 Cell model of prelamin A accumulation
Cobelo-Gómez et al.
Int. J. Mol. Sci.
DOI: 10.3390/ijms25021282

Metabolic and other morbid complications in congenital generalized lipodystrophy type 4
Akinci et al.
Am. J. Med. Genet. A.
DOI: 10.1002/ajmg.a.63533

Familial screening for the prevention of rare diseases: A focus on lipodystrophy in Southern Saudi Arabia
Abuzenadah et al.
J. Epidemiol Glob. Health
DOI: 10.1007/s44197-023-00182-5

Perilipin 1: a systematic review on its functions on lipid metabolism and atherosclerosis in mice and humans
Desgrouas et al.
Cardiovasc. Res.
DOI: 10.1093/cvr/cvae005

Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China
Wang et al.
Pediatr. Res.
DOI: 10.1038/s41390-023-02981-9

Phospholipid biosynthetic pathways and lipodystrophies: a novel syndrome due to PLAAT3 deficiency
Agarwal and Garg
Nat. Rev. Endocrinol.

Impact of lipodystrophy on health-related quality of life: the QuaLip study
Demir et al.
Orphanet J. Rare Dis.
DOI: 10.1186/s13023-023-03004-w

Molecular characterization of the grass carp Bscl2 gene and its expression response to lipid accumulation, nutritional status, insulin and glucagon
Yang et al.
Comp. Biochem. Physiol. B. Biochem. Mol. Biol.
DOI: 10.1016/j.cbpb.2023.110931

Surplus fatty acid synthesis increases oxidative stress in adipocytes and lnduces lipodystrophy

Weng et al.
Nat. Commun.
DOI: 10.1038/s41467-023-44393-7


Influence of diet and body weight in treatment-resistant acquired partial lipodystrophy after hematopoietic stem cell transplantation and its potential for metabolic improvement
Ishida et al.
Diabetol Int
DOI: 10.1007/s13340-023-00674-6

Liver transplantation in patient with Berardinelli-Seip syndrome: A literature review and case report
Aliyev et al.
Pediatric Transplantation
DOI: 10.1111/petr.14680

Molecular mechanisms of perilipin protein function in lipid droplet metabolism
Griseti et al.
FEBS Lett.
DOI: 10.1002/1873-3468.14792

DNA repair-deficient premature aging models display accelerated epigenetic age
Perez et al.
Aging Cell
DOI: 10.1111/acel.14058

Patients' perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy
Mosbah et al.
Eur J Endocrinol.
DOI: 10.1093/ejendo/lvad169

Clinical characteristics of patients with acquired partial lipodystrophy: a multicenter retrospective study
Magno et al.
J Clin Endocrinol Metab.
DOI: 10.1210/clinem/dgad700

The farnesyl transferase inhibitor (FTI) lonafarnib improves nuclear morphology in ZMPSTE24-deficient fibroblasts from patients with the progeroid disorder MAD-B
Odinammadu et al.
DOI: 10.1080/19491034.2023.2288476


Preclinical, randomized phase 1, and compassionate use evaluation of REGN4461, a leptin receptor agonist antibody for leptin deficiency
Altarejos et al.
Sci Transl Med.
DOI: 10.1126/scitranslmed.add4897

Clinical characterisation and comorbidities of acquired generalised lipodystrophy: A 14-year follow-up study
Fernández-Pombo et al.
J Clin Med.
DOI: 10.3390/jcm12237344

Mineralcorticoid receptor antagonism prevents type 2 familial partial lipodystrophy brown adipocyte dysfunction
Schena et al.
DOI: 10.3390/cells12222586.
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling
Schuermans et al.
Nat. Genet.

DOI: 10.1038/s41588-023-01535-3.
Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain
Fernández-Pombo et al.
Front Endocrinol (Lausanne)
DOI: 10.3389/fendo.2023.1250203.