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Article

The lack of the C-terminal domain of adipose triglyceride lipase causes neutral lipid storage disease through impaired interactions with lipid droplets.

The Journal of clinical endocrinology and metabolism - 1 Jul 2008

Kobayashi Kunihisa, Inoguchi Toyoshi, Maeda Yasutaka, Nakashima Naoki, Kuwano Asako, Eto Erina, Ueno Noriko, Sasaki Shuji, Sawada Fumi, Fujii Masakazu, Matoba Yuka, Sumiyoshi Shinji, Kawate Hisaya, Takayanagi Ryoichi

Abstract excerpt

CONTEXT: The molecular mechanisms by which triglycerides in lipid droplets (LDs) are synthesized, stored, and degraded need to be elucidated. OBJECTIVE: The objectives were to report siblings with neutral lipid storage disease with myopathy (NLSDM) with a novel mutation of adipose triglyceride li...

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PMID: 18445677
DOI: 10.1210/jc.2007-2247

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18445677-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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The lack of the C-terminal domain of adipose triglyceride lipase causes neutral lipid storage disease through impaired interactions with lipid droplets.PMID 18445677Read ↗

The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.Semantic proximity Read ↗

Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac functionSemantic proximity Read ↗

Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblingsSemantic proximity Read ↗

Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.Semantic proximity Read ↗

Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathySemantic proximity Read ↗

Metabolic consequences of adipose triglyceride lipase deficiency in humans: an in vivo study in patients with neutral lipid storage disease with myopathy.Semantic proximity Read ↗

A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles.Semantic proximity Read ↗

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Symptomatic lipid storage in carriers for the PNPLA2 gene.Semantic proximity Read ↗

Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study.Semantic proximity Read ↗

Identification of diverse lipid droplet targeting motifs in the PNPLA family of triglyceride lipases.Semantic proximity Read ↗

Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy.Semantic proximity Read ↗

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