Lipodistrophy: a paradigm for understanding the consequences of “overloading” adipose tissue
K Lim, A Haider, C Adams, A Sleigh… - Physiological …, 2021 - journals.physiology.org
Lipodystrophies have been recognized since at least the nineteenth century and, despite
their rarity, tended to attract considerable medical attention because of the severity and …
their rarity, tended to attract considerable medical attention because of the severity and …
The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy
ASC Sarmento, LC Ferreira, JG Lima… - … Research/Reviews in …, 2019 - Elsevier
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare disease characterized by the
near total absence of body fat at birth. BSCL etiology involves genetic variations in four …
near total absence of body fat at birth. BSCL etiology involves genetic variations in four …
Lysophosphatidic acid triggers inflammation in the liver and white adipose tissue in rat models of 1-acyl-sn-glycerol-3-phosphate acyltransferase 2 deficiency and …
I Sakuma, RC Gaspar, PK Luukkonen… - Proceedings of the …, 2023 - National Acad Sciences
AGPAT2 (1-acyl-sn-glycerol-3-phosphate-acyltransferase-2) converts lysophosphatidic acid
(LPA) into phosphatidic acid (PA), and mutations of the AGPAT2 gene cause the most …
(LPA) into phosphatidic acid (PA), and mutations of the AGPAT2 gene cause the most …
Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous …
G Ceccarini, S Magno, C Pelosini, F Ferrari… - Frontiers in …, 2020 - frontiersin.org
Berardinelli-Seip congenital lipoatrophy (BSCL) is characterized by near total fat atrophy,
associated with the progressive development of metabolic complications. BSCL type 1 …
associated with the progressive development of metabolic complications. BSCL type 1 …
Lpaatδ/Agpat4 deficiency impairs maximal force contractility in soleus and alters fibre type in extensor digitorum longus muscle
Lysophosphatidic acid acyltransferase (LPAAT) δ/acylglycerophosphate acyltransferase 4 is
a mitochondrial enzyme and one of five homologues that catalyze the acyl-CoA-dependent …
a mitochondrial enzyme and one of five homologues that catalyze the acyl-CoA-dependent …
[HTML][HTML] Hereditary severe insulin resistance syndrome: Pathogenesis, pathophysiology, and clinical management
J Iqbal, HL Jiang, HX Wu, L Li, YH Zhou, N Hu, F Xiao… - Genes & …, 2023 - Elsevier
Severe insulin resistance has been linked to some of the most globally prevalent disorders,
such as diabetes mellitus, nonalcoholic fatty liver disease, polycystic ovarian syndrome, and …
such as diabetes mellitus, nonalcoholic fatty liver disease, polycystic ovarian syndrome, and …
Lipodystrophy-a rare condition with serious metabolic abnormalities
LH Chung, Y Qi - Rare Diseases, 2019 - books.google.com
Lipodystrophy is a rare lipid storage disorder that is characterized by a loss of adipose
tissue. It can be inherited due to monogenic mutation or acquired by medication and …
tissue. It can be inherited due to monogenic mutation or acquired by medication and …