Purification and characterization of neuropathy target esterase (NTE) from rat brain

Kaur, Pushpinder; Raheja, Geetu; Singh, Surjit; Gill, Kiran Dip

doi:10.1016/j.lfs.2005.11.029

Cited by 1 publication

(1 citation statement)

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“…PNPLA6, a conservative protein found in many species ranging from yeast to mammals (Chang et al, 2008; Kaur et al, 2006; Kretzschmar et al, 1997; Zaccheo et al, 2004), is abundantly expressed in the central nervous system and peripheral nerves (Johnson, 1982; Lush et al, 1998). PNPLA6 is anchored to the cytoplasmic side of endoplasmic reticulum (ER) and displays potent phospholipase B activity that is responsible for converting phosphatidylcholine to glycerophosphocholine in mammalian cells (Zaccheo et al, 2004).…”

Section: Introductionmentioning

confidence: 99%

Knockdown of pnpla6 protein results in motor neuron defects in zebrafish

Song

Wang

Mao

et al. 2012

Disease Models &Amp; Mechanisms

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SUMMARYMutations in patatin-like phospholipase domain containing 6 (PNPLA6), also known as neuropathy target esterase (NTE) or SPG39, cause hereditary spastic paraplegia (HSP). Although studies on animal models, including mice and Drosophila, have extended our understanding of PNPLA6, its roles in neural development and in HSP are not clearly understood. Here, we describe the generation of a vertebrate model of PNPLA6 insufficiency using morpholino oligonucleotide knockdown in zebrafish (Danio rerio). Pnpla6 knockdown resulted in developmental abnormalities and motor neuron defects, including axon truncation and branching. The phenotypes in pnpla6 knockdown morphants were rescued by the introduction of wild-type, but not mutant, human PNPLA6 mRNA. Our results also revealed the involvement of BMP signaling in pnpla6 knockdown phenotypes. Taken together, these results demonstrate an important role of PNPLA6 in motor neuron development and implicate overexpression of BMP signaling as a possible mechanism underlying the developmental defects in pnpla6 morphants.

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