[HTML][HTML] Adipose tissue: physiology to metabolic dysfunction

AJ Richard, U White, CM Elks, JM Stephens - Endotext [Internet], 2020 - ncbi.nlm.nih.gov
Like the obesity epidemic, our understanding of adipocytes and adipose tissue is
expanding. Just in the past decade, substantial advances have led to new insights into the …

Fatty liver in lipodystrophy: a review with a focus on therapeutic perspectives of adiponectin and/or leptin replacement

SA Polyzos, N Perakakis, CS Mantzoros - Metabolism, 2019 - Elsevier
Lipodystrophy is a group of clinically heterogeneous, inherited or acquired, disorders
characterized by complete or partial absence of subcutaneous adipose tissue that may …

Lipodystrophies, dyslipidaemias and atherosclerotic cardiovascular disease

I Hussain, N Patni, A Garg - Pathology, 2019 - Elsevier
Lipodystrophies are rare, heterogeneous, genetic or acquired, disorders characterised by
varying degrees of body fat loss and associated metabolic complications, including insulin …

Nucleoplasmic lamin C rapidly accumulates at sites of nuclear envelope rupture with BAF and cGAS

Y Kono, SA Adam, Y Sato, KL Reddy, Y Zheng… - Journal of Cell …, 2022 - rupress.org
In mammalian cell nuclei, the nuclear lamina (NL) underlies the nuclear envelope (NE) to
maintain nuclear structure. The nuclear lamins, the major structural components of the NL …

Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review

A Fernandez-Pombo, EJ Diaz-Lopez, AI Castro… - Cells, 2023 - mdpi.com
Type 2 familial partial lipodystrophy (FPLD2) is a laminopathic lipodystrophy due to
pathogenic variants in the LMNA gene. Its rarity implies that it is not well-known. The aim of …

Deciphering the clinical presentations in LMNA-related lipodystrophy: report of 115 cases and a systematic review

O Besci, MC Foss de Freitas… - The Journal of …, 2024 - academic.oup.com
Context Lipodystrophy syndromes are a heterogeneous group of rare genetic or acquired
disorders characterized by generalized or partial loss of adipose tissue. LMNA-related …

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

EA Oral, P Gorden, E Cochran, D Araújo-Vilar… - Endocrine, 2019 - Springer
Purpose To evaluate the effects of metreleptin in patients with partial lipodystrophy (PL).
Methods Patients aged≥ 6 months with PL, circulating leptin< 12.0 ng/mL, and diabetes …

[HTML][HTML] Lipodystrophy syndromes: presentation and treatment

B Akinci, M Sahinoz, E Oral - 2018 - europepmc.org
Lipodystrophy syndromes are a heterogeneous group of diseases, characterized by
selective absence of adipose tissue. In one sense, these diseases are lipid-partitioning …

Phenotypic and genetic characteristics of lipodystrophy: pathophysiology, metabolic abnormalities, and comorbidities

B Akinci, R Meral, EA Oral - Current Diabetes Reports, 2018 - Springer
Purpose of review This article focuses on recent progress in understanding the genetics of
lipodystrophy syndromes, the pathophysiology of severe metabolic abnormalities caused by …

Rare Variation in LMNA Underlies Polycystic Ovary Syndrome Pathogenesis in 2 Independent Cohorts

R Bauer, C Parker, LK Gorsic, MG Hayes… - The Journal of …, 2024 - academic.oup.com
Context Polycystic ovary syndrome (PCOS) is a common, heritable endocrinopathy that is a
common cause of anovulatory infertility in reproductive age women. Variants in LMNA cause …