The Ser19Stop single nucleotide polymorphism (SNP) of human PHYHIPL affects the cerebellum in mice

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

The Ser19Stop single nucleotide polymorphism (SNP) of human PHYHIPL affects the cerebellum in mice. / Sugimoto, Hisako; Horii, Takuro; Hirota, Jun Na; Sano, Yoshitake; Shinoda, Yo; Konno, Ayumu; Hirai, Hirokazu; Ishizaki, Yasuki; Hirase, Hajime; Hatada, Izuho; Furuichi, Teiichi; Sadakata, Tetsushi.

In: Molecular Brain, Vol. 14, No. 1, 52, 2021.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Sugimoto, H, Horii, T, Hirota, JN, Sano, Y, Shinoda, Y, Konno, A, Hirai, H, Ishizaki, Y, Hirase, H, Hatada, I, Furuichi, T & Sadakata, T 2021, 'The Ser19Stop single nucleotide polymorphism (SNP) of human PHYHIPL affects the cerebellum in mice', Molecular Brain, vol. 14, no. 1, 52. https://doi.org/10.1186/s13041-021-00766-x

APA

Sugimoto, H., Horii, T., Hirota, J. N., Sano, Y., Shinoda, Y., Konno, A., Hirai, H., Ishizaki, Y., Hirase, H., Hatada, I., Furuichi, T., & Sadakata, T. (2021). The Ser19Stop single nucleotide polymorphism (SNP) of human PHYHIPL affects the cerebellum in mice. Molecular Brain, 14(1), [52]. https://doi.org/10.1186/s13041-021-00766-x

Vancouver

Sugimoto H, Horii T, Hirota JN, Sano Y, Shinoda Y, Konno A et al. The Ser19Stop single nucleotide polymorphism (SNP) of human PHYHIPL affects the cerebellum in mice. Molecular Brain. 2021;14(1). 52. https://doi.org/10.1186/s13041-021-00766-x

Author

Sugimoto, Hisako ; Horii, Takuro ; Hirota, Jun Na ; Sano, Yoshitake ; Shinoda, Yo ; Konno, Ayumu ; Hirai, Hirokazu ; Ishizaki, Yasuki ; Hirase, Hajime ; Hatada, Izuho ; Furuichi, Teiichi ; Sadakata, Tetsushi. / The Ser19Stop single nucleotide polymorphism (SNP) of human PHYHIPL affects the cerebellum in mice. In: Molecular Brain. 2021 ; Vol. 14, No. 1.

Bibtex

@article{31c600a7644e49cea0b94ee6c8a853c6,
title = "The Ser19Stop single nucleotide polymorphism (SNP) of human PHYHIPL affects the cerebellum in mice",
abstract = "The HapMap Project is a major international research effort to construct a resource to facilitate the discovery of relationships between human genetic variations and health and disease. The Ser19Stop single nucleotide polymorphism (SNP) of human phytanoyl-CoA hydroxylase-interacting protein-like (PHYHIPL) gene was detected in HapMap project and registered in the dbSNP. PHYHIPL gene expression is altered in global ischemia and glioblastoma multiforme. However, the function of PHYHIPL is unknown. We generated PHYHIPL Ser19Stop knock-in mice and found that PHYHIPL impacts the morphology of cerebellar Purkinje cells (PCs), the innervation of climbing fibers to PCs, the inhibitory inputs to PCs from molecular layer interneurons, and motor learning ability. Thus, the Ser19Stop SNP of the PHYHIPL gene may be associated with cerebellum-related diseases.",
keywords = "Cerebellum, dbSNP, HapMap Project, PHYHIP, PHYHIPL, Purkinje cell",
author = "Hisako Sugimoto and Takuro Horii and Hirota, {Jun Na} and Yoshitake Sano and Yo Shinoda and Ayumu Konno and Hirokazu Hirai and Yasuki Ishizaki and Hajime Hirase and Izuho Hatada and Teiichi Furuichi and Tetsushi Sadakata",
year = "2021",
doi = "10.1186/s13041-021-00766-x",
language = "English",
volume = "14",
journal = "Molecular Brain",
issn = "1756-6606",
publisher = "BioMed Central",
number = "1",

}

RIS

TY - JOUR

T1 - The Ser19Stop single nucleotide polymorphism (SNP) of human PHYHIPL affects the cerebellum in mice

AU - Sugimoto, Hisako

AU - Horii, Takuro

AU - Hirota, Jun Na

AU - Sano, Yoshitake

AU - Shinoda, Yo

AU - Konno, Ayumu

AU - Hirai, Hirokazu

AU - Ishizaki, Yasuki

AU - Hirase, Hajime

AU - Hatada, Izuho

AU - Furuichi, Teiichi

AU - Sadakata, Tetsushi

PY - 2021

Y1 - 2021

N2 - The HapMap Project is a major international research effort to construct a resource to facilitate the discovery of relationships between human genetic variations and health and disease. The Ser19Stop single nucleotide polymorphism (SNP) of human phytanoyl-CoA hydroxylase-interacting protein-like (PHYHIPL) gene was detected in HapMap project and registered in the dbSNP. PHYHIPL gene expression is altered in global ischemia and glioblastoma multiforme. However, the function of PHYHIPL is unknown. We generated PHYHIPL Ser19Stop knock-in mice and found that PHYHIPL impacts the morphology of cerebellar Purkinje cells (PCs), the innervation of climbing fibers to PCs, the inhibitory inputs to PCs from molecular layer interneurons, and motor learning ability. Thus, the Ser19Stop SNP of the PHYHIPL gene may be associated with cerebellum-related diseases.

AB - The HapMap Project is a major international research effort to construct a resource to facilitate the discovery of relationships between human genetic variations and health and disease. The Ser19Stop single nucleotide polymorphism (SNP) of human phytanoyl-CoA hydroxylase-interacting protein-like (PHYHIPL) gene was detected in HapMap project and registered in the dbSNP. PHYHIPL gene expression is altered in global ischemia and glioblastoma multiforme. However, the function of PHYHIPL is unknown. We generated PHYHIPL Ser19Stop knock-in mice and found that PHYHIPL impacts the morphology of cerebellar Purkinje cells (PCs), the innervation of climbing fibers to PCs, the inhibitory inputs to PCs from molecular layer interneurons, and motor learning ability. Thus, the Ser19Stop SNP of the PHYHIPL gene may be associated with cerebellum-related diseases.

KW - Cerebellum

KW - dbSNP

KW - HapMap Project

KW - PHYHIP

KW - PHYHIPL

KW - Purkinje cell

U2 - 10.1186/s13041-021-00766-x

DO - 10.1186/s13041-021-00766-x

M3 - Journal article

C2 - 33712038

AN - SCOPUS:85102372305

VL - 14

JO - Molecular Brain

JF - Molecular Brain

SN - 1756-6606

IS - 1

M1 - 52

ER -

ID: 258823476