Robert V. Farese
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View article: Proteome Landscapes Decode Organelle Vulnerabilities in cortical and dopaminergic-like induced neurons Across Lysosomal Storage Disorders
Proteome Landscapes Decode Organelle Vulnerabilities in cortical and dopaminergic-like induced neurons Across Lysosomal Storage Disorders Open
Lysosomes maintain cellular homeostasis by degrading proteins delivered via endocytosis and autophagy and recycling building blocks for organelle biogenesis. Lysosomal Storage Disorders (LSDs) comprise a broad group of diseases affecting l…
View article: Plasma lipidome dysregulation in frontotemporal dementia reveals shared, genotype‐specific, and severity‐linked alterations
Plasma lipidome dysregulation in frontotemporal dementia reveals shared, genotype‐specific, and severity‐linked alterations Open
INTRODUCTION Biomarkers are essential for monitoring the progression of frontotemporal dementia (FTD). Although dysregulated brain lipid metabolism, particularly sphingolipids enriched in the nervous system, is a key feature of neurodegene…
View article: Mechanism for oil-phase separation by the lipid droplet assembly complex
Mechanism for oil-phase separation by the lipid droplet assembly complex Open
Summary Cells store metabolic energy as triglyceride (TG) oils in lipid droplets (LDs). LDs form de novo from the endoplasmic reticulum. How the lipid droplet assembly complex (LDAC), composed of seipin and LDAF1 1,2 , catalyzes the organi…
View article: Plasma lipidome dysregulation in frontotemporal dementia reveals shared, genotype-specific, and severity-linked alterations
Plasma lipidome dysregulation in frontotemporal dementia reveals shared, genotype-specific, and severity-linked alterations Open
Developing new treatment strategies for frontotemporal dementia (FTD) and other forms of neurodegeneration requires biomarkers to monitor disease progression. Dysregulated brain lipid metabolism, particularly sphingolipids enriched in the …
View article: Essential Biology of Lipid Droplets
Essential Biology of Lipid Droplets Open
Lipid droplets (LDs), long overlooked as inert cellular storage organelles, are now recognized for their complex and rich biology as membraneless organelles integral to cell metabolism. Significant advances have revealed that LDs are cruci…
View article: A progranulin variant causing childhood interstitial lung disease responsive to anti-TNF-α biologic therapy
A progranulin variant causing childhood interstitial lung disease responsive to anti-TNF-α biologic therapy Open
This work was supported by a grant from the Chan Zuckerberg Initiative Patient-Partnered Collaboration for single-cell analysis of rare inflammatory pediatric disease, the Corkin Family Fund for Research, and in part by cooperative agreeme…
View article: DHRS7 Integrates NADP<sup>+</sup>/NADPH Redox Sensing with Inflammatory Lipid Signalling via the Oxoeicosanoid Pathway
DHRS7 Integrates NADP<sup>+</sup>/NADPH Redox Sensing with Inflammatory Lipid Signalling via the Oxoeicosanoid Pathway Open
During the innate immune response at epithelial wound sites, oxidative stress acts microbicidal and—mechanistically less well understood—as an immune and resilience signal. The reversible sulfhydryl (SH) oxidation of kinases, phosphatases,…
View article: Partial loss of<i>FITM2</i>function causes hereditary spastic paraplegia
Partial loss of<i>FITM2</i>function causes hereditary spastic paraplegia Open
FITM2 encodes fat-storage inducing transmembrane protein 2 (FIT2), a lipid diphosphatase in the ER that cleaves acyl-CoAs and is crucial for ER homeostasis. In humans, homozygous null mutations in FITM2 are associated with a syndrome chara…
View article: Carboxy-terminal blockade of sortilin binding enhances progranulin gene therapy, a potential treatment for frontotemporal dementia
Carboxy-terminal blockade of sortilin binding enhances progranulin gene therapy, a potential treatment for frontotemporal dementia Open
Frontotemporal dementia is commonly caused by loss-of-function mutations in the progranulin gene. Potential therapies for this disorder have entered clinical trials, including progranulin gene therapy and drugs that reduce progranulin inte…
View article: Organelle bridges and nanodomain partitioning govern targeting of membrane-embedded proteins to lipid droplets
Organelle bridges and nanodomain partitioning govern targeting of membrane-embedded proteins to lipid droplets Open
Numerous metabolic enzymes translocate from the ER membrane bilayer to the lipid droplet (LD) monolayer, where they perform essential functions. Mislocalization of certain LD-targeted membrane proteins, including HSD17B13 and PNPLA3, is im…
View article: PLD3 and PLD4 synthesize<i>S,S</i>-BMP, a key phospholipid enabling lipid degradation in lysosomes
PLD3 and PLD4 synthesize<i>S,S</i>-BMP, a key phospholipid enabling lipid degradation in lysosomes Open
SUMMARY Bis(monoacylglycero)phosphate (BMP) is an abundant lysosomal phospholipid required for degradation of lipids, in particular gangliosides. Alterations in BMP levels are associated with neurodegenerative diseases. Unlike typical glyc…
View article: Mice lacking triglyceride synthesis enzymes in adipose tissue are resistant to diet-induced obesity
Mice lacking triglyceride synthesis enzymes in adipose tissue are resistant to diet-induced obesity Open
Triglycerides (TGs) in adipocytes provide the major stores of metabolic energy in the body. Optimal amounts of TG stores are desirable as insufficient capacity to store TG, as in lipodystrophy, or exceeding the capacity for storage, as in …
View article: Mice lacking triglyceride synthesis enzymes in adipose tissue are resistant to diet-induced obesity
Mice lacking triglyceride synthesis enzymes in adipose tissue are resistant to diet-induced obesity Open
Summary Triglycerides (TG) in adipocytes provide the major stores of metabolic energy in the body. Optimal amounts of TG stores are desirable as insufficient capacity to store TG, as in lipodystrophy, or exceeding the capacity for storage,…
View article: Author Response: Mice lacking triglyceride synthesis enzymes in adipose tissue are resistant to diet-induced obesity
Author Response: Mice lacking triglyceride synthesis enzymes in adipose tissue are resistant to diet-induced obesity Open
Triglycerides (TG) in adipocytes provide the major stores of metabolic energy in the body. Optimal amounts of TG stores are desirable as insufficient capacity to store TG, as in lipodystrophy, or exceeding the capacity for storage, as in o…
View article: The Troyer syndrome protein spartin mediates selective autophagy of lipid droplets
The Troyer syndrome protein spartin mediates selective autophagy of lipid droplets Open
Lipid droplets (LDs) are crucial organelles for energy storage and lipid homeostasis. Autophagy of LDs is an important pathway for their catabolism, but the molecular mechanisms mediating LD degradation by selective autophagy (lipophagy) a…
View article: Mice lacking triglyceride synthesis enzymes in adipose tissue are resistant to diet-induced obesity
Mice lacking triglyceride synthesis enzymes in adipose tissue are resistant to diet-induced obesity Open
Triglycerides (TGs) in adipocytes provide the major stores of metabolic energy in the body. Optimal amounts of TG stores are desirable as insufficient capacity to store TG, as in lipodystrophy, or exceeding the capacity for storage, as in …
View article: Mice lacking triglyceride synthesis enzymes in adipose tissue are resistant to diet-induced obesity
Mice lacking triglyceride synthesis enzymes in adipose tissue are resistant to diet-induced obesity Open
Summary Triglycerides (TG) in adipocytes provide the major stores of metabolic energy in the body. Optimal amounts of TG stores are desirable as insufficient capacity to store TG, as in lipodystrophy, or exceeding the capacity for storage,…
View article: Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis
Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis Open
Haploinsufficiency of GRN causes frontotemporal dementia (FTD). The GRN locus produces progranulin (PGRN), which is cleaved to lysosomal granulin polypeptides. The function of lysosomal granulins and why their absence causes neurodegenerat…
View article: The structure, catalytic mechanism, and inhibitor identification of phosphatidylinositol remodeling MBOAT7
The structure, catalytic mechanism, and inhibitor identification of phosphatidylinositol remodeling MBOAT7 Open
Cells remodel glycerophospholipid acyl chains via the Lands cycle to adjust membrane properties. Membrane-bound O -acyltransferase (MBOAT) 7 acylates lyso-phosphatidylinositol (lyso-PI) with arachidonyl-CoA. MBOAT7 mutations cause brain de…
View article: Glycerolipid Synthesis and Lipid Droplet Formation in the Endoplasmic Reticulum
Glycerolipid Synthesis and Lipid Droplet Formation in the Endoplasmic Reticulum Open
More than 60 years ago, Eugene Kennedy and coworkers elucidated the endoplasmic reticulum (ER)-based pathways of glycerolipid synthesis, including the synthesis of phospholipids and triacylglycerols (TGs). The reactions of the Kennedy path…
View article: Deficiency of GRN, a frontotemporal dementia gene, results in gangliosidosis
Deficiency of GRN, a frontotemporal dementia gene, results in gangliosidosis Open
Haploinsufficiency of GRN causes frontotemporal dementia (FTD). The GRN locus produces progranulin (PGRN), which is cleaved to lysosomal granulin polypeptides. The function of lysosomal granulins and why their absence causes neurodegenerat…