Literature DB >> 30209687

Do GWAS and studies of heterozygotes for NPC1 and/or NPC2 explain why NPC disease cases are so rare?

Robert P Erickson1.   

Abstract

Early onset Niemann-Pick C diseases are extremely rare, especially Niemann-Pick C2. Perhaps unusually for autosomal recessive diseases, heterozygotes for mutations in NPC1 manifest many biological variations. NPC2 deficiency has large effects on fertility. These features of NPC1 and NPC2 are reviewed in regard to possible negative selection for heterozygotes carrying null and hypomorphic alleles.

Entities:  

Keywords:  Carrier frequency; Dementia; Fertility; Heterozygote disadvantage; Niemann-Pick C disease; Obesity

Mesh：

Substances：

Year:  2018        PMID： 30209687     DOI： 10.1007/s13353-018-0465-2

Source DB:  PubMed          Journal:  J Appl Genet        ISSN： 1234-1983            Impact factor:   3.240


  79 in total

1.  Protection afforded by sickle-cell trait against subtertian malareal infection.

Authors:  A C ALLISON
Journal:  Br Med J       Date:  1954-02-06

2.  Interactions of Npc1 and amyloid accumulation/deposition in the APP/PS1 mouse model of Alzheimer's.

Authors:  Ivan A Borbon; Robert P Erickson
Journal:  J Appl Genet       Date:  2010-12-18       Impact factor: 3.240

3.  Identification of NPC2 protein as interaction molecule with C2 domain of human Nedd4L.

Authors:  Naomi Araki; Tomoaki Ishigami; Hisako Ushio; Shintaro Minegishi; Masanari Umemura; Yohei Miyagi; Ichiro Aoki; Hiroko Morinaga; Koichi Tamura; Yoshiyuki Toya; Kazuaki Uchino; Satoshi Umemura
Journal:  Biochem Biophys Res Commun       Date:  2009-08-05       Impact factor: 3.575

4.  Metabolic abnormalities in feline Niemann-Pick type C heterozygotes.

Authors:  D E Brown; M A Thrall; S U Walkley; S Wurzelmann; D A Wenger; R W Allison; C A Just
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

5.  Carrier testing for severe childhood recessive diseases by next-generation sequencing.

Authors:  Callum J Bell; Darrell L Dinwiddie; Neil A Miller; Shannon L Hateley; Elena E Ganusova; Joann Mudge; Ray J Langley; Lu Zhang; Clarence C Lee; Faye D Schilkey; Vrunda Sheth; Jimmy E Woodward; Heather E Peckham; Gary P Schroth; Ryan W Kim; Stephen F Kingsmore
Journal:  Sci Transl Med       Date:  2011-01-12       Impact factor: 17.956

6.  Presenilin redistribution associated with aberrant cholesterol transport enhances beta-amyloid production in vivo.

Authors:  Mark Burns; Kate Gaynor; Vicki Olm; Marc Mercken; John LaFrancois; Lili Wang; Paul M Mathews; Wendy Noble; Yasuji Matsuoka; Karen Duff
Journal:  J Neurosci       Date:  2003-07-02       Impact factor: 6.167

7.  Female infertility due to anovulation and defective steroidogenesis in NPC2 deficient mice.

Authors:  D Busso; M J Oñate-Alvarado; E Balboa; S Zanlungo; R D Moreno
Journal:  Mol Cell Endocrinol       Date:  2009-10-31       Impact factor: 4.102

8.  Transgenic overexpression of Niemann-Pick C2 protein promotes cholesterol gallstone formation in mice.

Authors:  Mariana Acuña; Lila González-Hódar; Ludwig Amigo; Juan Castro; M Gabriela Morales; Gonzalo I Cancino; Albert K Groen; Juan Young; Juan Francisco Miquel; Silvana Zanlungo
Journal:  J Hepatol       Date:  2015-12-10       Impact factor: 25.083

9.  The role of decreased levels of Niemann-Pick C1 intracellular cholesterol transport on obesity is reversed in the C57BL/6J, metabolic syndrome mouse strain: a metabolic or an inflammatory effect?

Authors:  Ivan Borbon; Erin Campbell; Wangjing Ke; Robert P Erickson
Journal:  J Appl Genet       Date:  2012-05-15       Impact factor: 3.240

10.  Ebola virus entry requires the cholesterol transporter Niemann-Pick C1.

Authors:  Jan E Carette; Matthijs Raaben; Anthony C Wong; Andrew S Herbert; Gregor Obernosterer; Nirupama Mulherkar; Ana I Kuehne; Philip J Kranzusch; April M Griffin; Gordon Ruthel; Paola Dal Cin; John M Dye; Sean P Whelan; Kartik Chandran; Thijn R Brummelkamp
Journal:  Nature       Date:  2011-08-24       Impact factor: 49.962
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  2 in total

Review 1.  The Cerebellum in Niemann-Pick C1 Disease: Mouse Versus Man.

Authors:  Maria Teresa Fiorenza; Piergiorgio La Rosa; Sonia Canterini; Robert P Erickson
Journal:  Cerebellum       Date:  2022-01-18       Impact factor: 3.648

2.  Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.

Authors:  Andreea Chiorean; William S Garver; David Meyre
Journal:  Sci Rep       Date:  2020-11-02       Impact factor: 4.379
  2 in total

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