MOUSE:NPC1

Species (Taxon ID)	Mus musculus (Mouse). (10090)
Gene Name(s)	Npc1
Protein Name(s)	Niemann-Pick C1 protein
External Links
UniProt	O35604
EMBL	AF003348 AF003349 AC102096 AC102248 CH466622
CCDS	CCDS29064.1
PIR	T30188
RefSeq	NP_032746.2
UniGene	Mm.3484
ProteinModelPortal	O35604
ChEMBL	CHEMBL2321610
PhosphoSite	O35604
MaxQB	O35604
PaxDb	O35604
PRIDE	O35604
Ensembl	ENSMUST00000025279
GeneID	18145
KEGG	mmu:18145
UCSC	uc008ecb.1
CTD	4864
MGI	MGI:1097712
eggNOG	NOG149152
GeneTree	ENSGT00760000119174
HOGENOM	HOG000036674
HOVERGEN	HBG003913
InParanoid	O35604
KO	K12385
OMA	AITETIC
OrthoDB	EOG7QRQT0
TreeFam	TF300416
ChiTaRS	Npc1
NextBio	293400
PRO	PR:O35604
Proteomes	UP000000589
CleanEx	MM_NPC1
ExpressionAtlas	O35604
Genevestigator	O35604
GO	GO:0005783 GO:0005768 GO:0005576 GO:0070062 GO:0005794 GO:0005887 GO:0031902 GO:0005765 GO:0005764 GO:0016020 GO:0045121 GO:0005635 GO:0048471 GO:0005886 GO:0031982 GO:0015485 GO:0008158 GO:0007628 GO:0006914 GO:0008206 GO:0071404 GO:0071383 GO:0033344 GO:0042632 GO:0008203 GO:0030301 GO:0006897 GO:0090150 GO:0007041 GO:0031579 GO:0060548 GO:0016242 GO:0006486 GO:0046686 GO:0042493
InterPro	IPR004765 IPR003392 IPR000731
Pfam	PF02460
TIGRFAMs	TIGR00917
PROSITE	PS50156

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
	GO:0046718	entry of virus into host cell	PMID:21866103^[1]	ECO:0000315			P		Fig. 4	complete CACAO 1967
	GO:0046718	entry of virus into host cell	PMID:21866101^[2]	ECO:0000315			P		Fig. 2C and Fig. 2D	complete CACAO 2106
part_of	GO:1905103	integral component of lysosomal membrane	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O15118	C		Seeded From UniProt	complete
involved_in	GO:0042632	cholesterol homeostasis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O15118	P		Seeded From UniProt	complete
involved_in	GO:0032367	intracellular cholesterol transport	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O15118	P		Seeded From UniProt	complete
involved_in	GO:0042632	cholesterol homeostasis	PMID:21896731^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005764	lysosome	PMID:21896731^[3]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0046718	viral entry into host cell	PMID:21866103^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0046718	viral entry into host cell	PMID:21866101^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0048471	perinuclear region of cytoplasm	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O15118	C		Seeded From UniProt	complete
involved_in	GO:0042632	cholesterol homeostasis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q7TMD4	P		Seeded From UniProt	complete
involved_in	GO:0030301	cholesterol transport	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O15118	P		Seeded From UniProt	complete
enables	GO:0015485	cholesterol binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O15118	F		Seeded From UniProt	complete
involved_in	GO:0008206	bile acid metabolic process	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q7TMD4	P		Seeded From UniProt	complete
involved_in	GO:0007041	lysosomal transport	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q7TMD4	P		Seeded From UniProt	complete
involved_in	GO:0006486	protein glycosylation	PMID:22065762^[4]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005887	integral component of plasma membrane	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O15118	C		Seeded From UniProt	complete
part_of	GO:0005783	endoplasmic reticulum	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O15118	C		Seeded From UniProt	complete
part_of	GO:0005764	lysosome	PMID:22065762^[4]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005635	nuclear envelope	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O15118	C		Seeded From UniProt	complete
part_of	GO:0005576	extracellular region	PMID:22065762^[4]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005794	Golgi apparatus	PMID:10787428^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(EMAPA:16846)	Seeded From UniProt	complete
part_of	GO:0005783	endoplasmic reticulum	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15118	C		Seeded From UniProt	complete
part_of	GO:0005768	endosome	PMID:16757520^[6]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005768	endosome	PMID:10787428^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(EMAPA:16846)\|part_of:(CL:0000057)	Seeded From UniProt	complete
part_of	GO:0005764	lysosome	PMID:10787428^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(EMAPA:16846)\|part_of:(CL:0000057)	Seeded From UniProt	complete
part_of	GO:0005635	nuclear envelope	PMID:20457914^[7]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(EMAPA:17544) part_of:(CL:0000540)	Seeded From UniProt	complete
part_of	GO:0005635	nuclear envelope	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15118	C		Seeded From UniProt	complete
part_of	GO:1905103	integral component of lysosomal membrane	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15118	C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0090150	establishment of protein localization to membrane	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15118	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0071404	cellular response to low-density lipoprotein particle stimulus	PMID:10787428^[5]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0071383	cellular response to steroid hormone stimulus	PMID:10787428^[5]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0060548	negative regulation of cell death	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:628693	P		Seeded From UniProt	complete
part_of	GO:0048471	perinuclear region of cytoplasm	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15118	C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0046718	viral entry into host cell	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15118	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0046686	response to cadmium ion	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:628693	P		Seeded From UniProt	complete
part_of	GO:0045121	membrane raft	PMID:10787428^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(EMAPA:16846) part_of:(CL:0000057)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0042632	cholesterol homeostasis	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15118	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0042493	response to drug	PMID:10787428^[5]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0033344	cholesterol efflux	PMID:17148552^[8]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:1857409	P	occurs_in:(EMAPA:19143) occurs_in:(CL:0000235)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0033344	cholesterol efflux	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15118	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0032367	intracellular cholesterol transport	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15118	P		Seeded From UniProt	complete
part_of	GO:0031982	vesicle	PMID:10787428^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0000057)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0031579	membrane raft organization	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15118	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0030301	cholesterol transport	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15118	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0016242	negative regulation of macroautophagy	PMID:17468177^[9]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1891828	P	regulates_o_occurs_in:(CL:0000057)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0016242	negative regulation of macroautophagy	PMID:17468177^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:1857409	P	regulates_o_occurs_in:(CL:0000057)\|regulates_o_occurs_in:(EMAPA:16846)\|regulates_o_occurs_in:(EMAPA:17787)	Seeded From UniProt	complete
part_of	GO:0016020	membrane	PMID:10787428^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(EMAPA:16846)	Seeded From UniProt	complete
enables	GO:0015485	cholesterol binding	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15118	F		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0007628	adult walking behavior	PMID:19074461^[10]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:97180	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0006914	autophagy	PMID:19074461^[10]	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15118	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0006897	endocytosis	PMID:15078881^[11]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:1857409	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0006486	protein glycosylation	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15118	P		Seeded From UniProt	complete
part_of	GO:0005887	integral component of plasma membrane	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15118	C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:10787428^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(EMAPA:16846)	Seeded From UniProt	complete
involved_in	GO:0060548	negative regulation of cell death	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:G3V7K5 ensembl:ENSRNOP00000016167	P		Seeded From UniProt	complete
involved_in	GO:0046686	response to cadmium ion	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:G3V7K5 ensembl:ENSRNOP00000016167	P		Seeded From UniProt	complete
part_of	GO:1905103	integral component of lysosomal membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O15118 ensembl:ENSP00000269228	C		Seeded From UniProt	complete
involved_in	GO:0090150	establishment of protein localization to membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O15118 ensembl:ENSP00000269228	P		Seeded From UniProt	complete
part_of	GO:0048471	perinuclear region of cytoplasm	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O15118 ensembl:ENSP00000269228	C		Seeded From UniProt	complete
involved_in	GO:0046718	viral entry into host cell	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O15118 ensembl:ENSP00000269228	P		Seeded From UniProt	complete
involved_in	GO:0042632	cholesterol homeostasis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O15118 ensembl:ENSP00000269228	P		Seeded From UniProt	complete
involved_in	GO:0033344	cholesterol efflux	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O15118 ensembl:ENSP00000269228	P		Seeded From UniProt	complete
involved_in	GO:0032367	intracellular cholesterol transport	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O15118 ensembl:ENSP00000269228	P		Seeded From UniProt	complete
involved_in	GO:0031579	membrane raft organization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O15118 ensembl:ENSP00000269228	P		Seeded From UniProt	complete
involved_in	GO:0030301	cholesterol transport	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O15118 ensembl:ENSP00000269228	P		Seeded From UniProt	complete
enables	GO:0015485	cholesterol binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O15118 ensembl:ENSP00000269228	F		Seeded From UniProt	complete
involved_in	GO:0006914	autophagy	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O15118 ensembl:ENSP00000269228	P		Seeded From UniProt	complete
involved_in	GO:0006486	protein glycosylation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O15118 ensembl:ENSP00000269228	P		Seeded From UniProt	complete
part_of	GO:0005887	integral component of plasma membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O15118 ensembl:ENSP00000269228	C		Seeded From UniProt	complete
part_of	GO:0005783	endoplasmic reticulum	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O15118 ensembl:ENSP00000269228	C		Seeded From UniProt	complete
part_of	GO:0005635	nuclear envelope	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O15118 ensembl:ENSP00000269228	C		Seeded From UniProt	complete
enables	GO:0005319	lipid transporter activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR004765	F		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR003392 InterPro:IPR004765	C		Seeded From UniProt	complete
involved_in	GO:0006629	lipid metabolic process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0443	P		Seeded From UniProt	complete
involved_in	GO:0008202	steroid metabolic process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0753	P		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0812	C		Seeded From UniProt	complete
part_of	GO:0005768	endosome	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0967	C		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C		Seeded From UniProt	complete
part_of	GO:0005764	lysosome	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0458	C		Seeded From UniProt	complete
involved_in	GO:0008203	cholesterol metabolic process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0153	P		Seeded From UniProt	complete
part_of	GO:0031902	late endosome membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0151	C		Seeded From UniProt	complete
part_of	GO:0005765	lysosomal membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0157	C		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 Carette, JE et al. (2011) Ebola virus entry requires the cholesterol transporter Niemann-Pick C1. Nature 477 340-3 PubMed GONUTS page
↑ ^2.0 ^2.1 Côté, M et al. (2011) Small molecule inhibitors reveal Niemann-Pick C1 is essential for Ebola virus infection. Nature 477 344-8 PubMed GONUTS page
↑ ^3.0 ^3.1 Xie, X et al. (2011) Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice. Proc. Natl. Acad. Sci. U.S.A. 108 15330-5 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 Deffieu, MS & Pfeffer, SR (2011) Niemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding. Proc. Natl. Acad. Sci. U.S.A. 108 18932-6 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 ^5.3 ^5.4 ^5.5 ^5.6 ^5.7 ^5.8 ^5.9 Garver, WS et al. (2000) Localization of the murine Niemann-Pick C1 protein to two distinct intracellular compartments. J. Lipid Res. 41 673-87 PubMed GONUTS page
↑ Ohsaki, Y et al. (2006) Cholesterol depletion facilitates ubiquitylation of NPC1 and its association with SKD1/Vps4. J. Cell. Sci. 119 2643-53 PubMed GONUTS page
↑ Kim, CE et al. (2010) A molecular mechanism underlying the neural-specific defect in torsinA mutant mice. Proc. Natl. Acad. Sci. U.S.A. 107 9861-6 PubMed GONUTS page
↑ Wang, MD et al. (2007) Different cellular traffic of LDL-cholesterol and acetylated LDL-cholesterol leads to distinct reverse cholesterol transport pathways. J. Lipid Res. 48 633-45 PubMed GONUTS page
↑ ^9.0 ^9.1 Pacheco, CD et al. (2007) Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects. Hum. Mol. Genet. 16 1495-503 PubMed GONUTS page
↑ ^10.0 ^10.1 Pacheco, CD et al. (2009) Tau deletion exacerbates the phenotype of Niemann-Pick type C mice and implicates autophagy in pathogenesis. Hum. Mol. Genet. 18 956-65 PubMed GONUTS page
↑ te Vruchte, D et al. (2004) Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport. J. Biol. Chem. 279 26167-75 PubMed GONUTS page

[PMID:21866103-1] 1.0 ^1.1 Carette, JE et al. (2011) Ebola virus entry requires the cholesterol transporter Niemann-Pick C1. Nature 477 340-3 PubMed GONUTS page

[PMID:21866101-2] 2.0 ^2.1 Côté, M et al. (2011) Small molecule inhibitors reveal Niemann-Pick C1 is essential for Ebola virus infection. Nature 477 344-8 PubMed GONUTS page

[PMID:21896731-3] 3.0 ^3.1 Xie, X et al. (2011) Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice. Proc. Natl. Acad. Sci. U.S.A. 108 15330-5 PubMed GONUTS page

[PMID:22065762-4] 4.0 ^4.1 ^4.2 Deffieu, MS & Pfeffer, SR (2011) Niemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding. Proc. Natl. Acad. Sci. U.S.A. 108 18932-6 PubMed GONUTS page

[PMID:10787428-5] 5.0 ^5.1 ^5.2 ^5.3 ^5.4 ^5.5 ^5.6 ^5.7 ^5.8 ^5.9 Garver, WS et al. (2000) Localization of the murine Niemann-Pick C1 protein to two distinct intracellular compartments. J. Lipid Res. 41 673-87 PubMed GONUTS page

[PMID:16757520-6] Ohsaki, Y et al. (2006) Cholesterol depletion facilitates ubiquitylation of NPC1 and its association with SKD1/Vps4. J. Cell. Sci. 119 2643-53 PubMed GONUTS page

[PMID:20457914-7] Kim, CE et al. (2010) A molecular mechanism underlying the neural-specific defect in torsinA mutant mice. Proc. Natl. Acad. Sci. U.S.A. 107 9861-6 PubMed GONUTS page

[PMID:17148552-8] Wang, MD et al. (2007) Different cellular traffic of LDL-cholesterol and acetylated LDL-cholesterol leads to distinct reverse cholesterol transport pathways. J. Lipid Res. 48 633-45 PubMed GONUTS page

[PMID:17468177-9] 9.0 ^9.1 Pacheco, CD et al. (2007) Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects. Hum. Mol. Genet. 16 1495-503 PubMed GONUTS page

[PMID:19074461-10] 10.0 ^10.1 Pacheco, CD et al. (2009) Tau deletion exacerbates the phenotype of Niemann-Pick type C mice and implicates autophagy in pathogenesis. Hum. Mol. Genet. 18 956-65 PubMed GONUTS page

[PMID:15078881-11] te Vruchte, D et al. (2004) Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport. J. Biol. Chem. 279 26167-75 PubMed GONUTS page

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MOUSE:NPC1

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