Literature DB >> 10602996

A modifier of Niemann Pick C 1 maps to mouse chromosome 19.

J Zhang1, R P Erickson.   

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Year:  2000        PMID： 10602996     DOI： 10.1007/s003350010013

Source DB:  PubMed          Journal:  Mamm Genome        ISSN： 0938-8990            Impact factor:   2.957


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  11 in total

Review 1.  Current controversies in Niemann-Pick C1 disease: steroids or gangliosides; neurons or neurons and glia.

Authors:  Robert P Erickson
Journal:  J Appl Genet       Date:  2013-01-05       Impact factor: 3.240

2.  A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.

Authors:  Robert A Maue; Robert W Burgess; Bing Wang; Christine M Wooley; Kevin L Seburn; Marie T Vanier; Maximillian A Rogers; Catherine C Chang; Ta-Yuan Chang; Brent T Harris; David J Graber; Carlos A A Penatti; Donna M Porter; Benjamin S Szwergold; Leslie P Henderson; John W Totenhagen; Theodore P Trouard; Ivan A Borbon; Robert P Erickson
Journal:  Hum Mol Genet       Date:  2011-11-02       Impact factor: 6.150

3.  Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport.

Authors:  David E Sleat; Jennifer A Wiseman; Mukarram El-Banna; Sandy M Price; Lucie Verot; Michael M Shen; G Stephen Tint; Marie T Vanier; Steven U Walkley; Peter Lobel
Journal:  Proc Natl Acad Sci U S A       Date:  2004-04-07       Impact factor: 11.205

4.  Astrocyte-only Npc1 reduces neuronal cholesterol and triples life span of Npc1-/- mice.

Authors:  Min Zhang; Diana Strnatka; Carolyn Donohue; Janice L Hallows; Inez Vincent; Robert P Erickson
Journal:  J Neurosci Res       Date:  2008-10       Impact factor: 4.164

5.  Maternal immune activation modifies the course of Niemann-pick disease, type C1 in a gender specific manner.

Authors:  Antony Cougnoux; Mason Fellmeth; Tansy Gu; Cristin D Davidson; Alana L Gibson; William J Pavan; Forbes D Porter
Journal:  Mol Genet Metab       Date:  2019-10-17       Impact factor: 4.797

6.  Neuronal and epithelial cell rescue resolves chronic systemic inflammation in the lipid storage disorder Niemann-Pick C.

Authors:  Manuel E Lopez; Andrés D Klein; Jennifer Hong; Ubah J Dimbil; Matthew P Scott
Journal:  Hum Mol Genet       Date:  2012-04-06       Impact factor: 6.150

7.  Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1.

Authors:  Jorge L Rodriguez-Gil; Dawn E Watkins-Chow; Laura L Baxter; Gene Elliot; Ursula L Harper; Stephen M Wincovitch; Julia C Wedel; Arturo A Incao; Mylene Huebecker; Frederick J Boehm; William S Garver; Forbes D Porter; Karl W Broman; Frances M Platt; William J Pavan
Journal:  Dis Model Mech       Date:  2020-03-13       Impact factor: 5.758

8.  Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.

Authors:  Andrea Dardis; Stefania Zampieri; Cinzia Gellera; Rosalba Carrozzo; Silvia Cattarossi; Paolo Peruzzo; Rosalia Dariol; Annalisa Sechi; Federica Deodato; Claudio Caccia; Daniela Verrigni; Serena Gasperini; Agata Fiumara; Simona Fecarotta; Miryam Carecchio; Massimiliano Filosto; Lucia Santoro; Barbara Borroni; Andrea Bordugo; Francesco Brancati; Cinzia V Russo; Maja Di Rocco; Antonio Toscano; Maurizio Scarpa; Bruno Bembi
Journal:  J Clin Med       Date:  2020-03-03       Impact factor: 4.241

Review 9.  Understanding and Treating Niemann-Pick Type C Disease: Models Matter.

Authors:  Valentina Pallottini; Frank W Pfrieger
Journal:  Int J Mol Sci       Date:  2020-11-26       Impact factor: 5.923

10.  NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology.

Authors:  Jorge L Rodriguez-Gil; Dawn E Watkins-Chow; Laura L Baxter; Tadafumi Yokoyama; Patricia M Zerfas; Matthew F Starost; William A Gahl; May Christine V Malicdan; Forbes D Porter; Frances M Platt; William J Pavan
Journal:  J Clin Med       Date:  2019-12-19       Impact factor: 4.241
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