HM03123
High Molecular Weight DNA from Fibroblast
Description:
NIEMANN-PICK DISEASE, TYPE C1; NPC1
NPC1 GENE; NPC1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid Metabolism |
| Estimated Quantity |
5 µg - 20 µg |
| Product Specifications |
Please see our FAQ |
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Biopsy Source
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Skin
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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High Molecular Weight DNA from Fibroblast
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Biochemical characterization after cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
6.51 |
| Passage Frozen |
10 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| sphingomyelin phosphodiesterase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.4.12; 38% activity. |
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| Gene |
NPC1 |
| Chromosomal Location |
18q11-q12 |
| Allelic Variant 1 |
P237S; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
PRO237SER |
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| Gene |
NPC1 |
| Chromosomal Location |
18q11-q12 |
| Allelic Variant 1 |
; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
c.1947+5G>C |
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| Gene |
NPC1 |
| Chromosomal Location |
18q11-q12 |
| Allelic Variant 2 |
607623.0010; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
ILE1061THR; In an initial study of 25 patients with type C1 Niemann-Pick disease, Millat et al. [Am. J. Hum. Genet. 65: 1321-1329 (1999)] identified a T-to-C transition at nucleotide 3182 of the NPC1 gene that led to an ile1061-to-thr substitution (I1061T) in 3 patients. The mutation, located in exon 21, affected a putative transmembrane domain of the protein. The mutation was particularly frequent in patients with NPC from western Europe, especially France and the U.K. and in Hispanic patients whose roots were in the Upper Rio Grande valley of the U.S. Millat et al. [Am. J. Hum. Genet. 65: 1321-1329 (1999)] concluded that the I1061T mutation originated in Europe and that the high frequency in northern Rio Grande Hispanics resulted from a founder effect. |
| Remarks |
38% of normal sphingomyelinase activity, normal B-galactosidase activity, and impaired cholesterol esterification in fibroblasts; the donor subject is a compound heterozygote; one allele carries a pathogenic splice site mutation c.1947+5G>C (rs770321568, g.41940G>C), as well as a missense mutation c.709C>T [p.Pro237Ser (P237S); rs80358251] in exon 6 of the NPC1 gene; the second allele carries a pathogenic missense mutation c.3182T>C in exon 21 [p.Ile1061Thr (I1061T)] in a luminal domain; same subject as GM03124 (LCL) and GM25864 (stem cell). |
| Nunes MJ, Carvalho AN, Reis J, Costa D, Moutinho M, Mateus J, de Almeida RM, Brito S, Risso D, Nunes S, Castro-Caldas M, Gama MJ, Rodrigues CMP, Xapelli S, Diógenes MJ, Cartier N, Chali F, Piguet F, Rodrigues E, Cholesterol redistribution triggered by CYP46A1 gene therapy improves major hallmarks of Niemann-Pick type C disease but is not sufficient to halt neurodegeneration Biochimica et biophysica acta Molecular basis of disease:166993 2023 |
| PubMed ID: 38142760 |
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| Wheeler S, Bhardwaj M, Kenyon V, Ferraz MJ, Aerts JMFG, Sillence DJ, Mitochondrial dysfunction in NPC1-deficiency is not rescued by drugs targeting the glucosylceramidase GBA2 and the cholesterol-binding proteins TSPO and StARD1 FEBS letters:166993 2023 |
| PubMed ID: 38302739 |
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| Han S, Wang Q, Song Y, Pang M, Ren C, Wang J, Guan D, Xu W, Li F, Wang F, Zhou X, Fernández-Hernando C, Zhang H, Wu D, Ye Z, Lithium ameliorates Niemann-Pick C1 disease phenotypes by impeding STING/SREBP2 activation iScience26:106613 2022 |
| PubMed ID: 37128603 |
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| Samaddar S, Bose D, Loren BP, Skulsky JL, Ilnytska O, Struzik ZJ, Storch J, Thompson DH, Structure-function relationships of cholesterol mobilization from the endo-lysosome compartment of NPC1-deficient human cells by ß-CD polyrotaxanes PloS one17:e0268613 2022 |
| PubMed ID: 36584173 |
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| Scotto Rosato A, Krogsaeter EK, Jaslan D, Abrahamian C, Montefusco S, Soldati C, Spix B, Pizzo MT, Grieco G, Böck J, Wyatt A, Wünkhaus D, Passon M, Stieglitz M, Keller M, Hermey G, Markmann S, Gruber-Schoffnegger D, Cotman S, Johannes L, Crusius D, Boehm U, Wahl-Schott C, Biel M, Bracher F, De Leonibus E, Polishchuk E, Medina DL, Paquet D, Grimm C, TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease EMBO molecular medicine14:e15377 2022 |
| PubMed ID: 35929194 |
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| Argüello G, Balboa E, Tapia PJ, Castro J, Yañez MJ, Mattar P, Pulgar R, Zanlungo S, Genistein Activates Transcription Factor EB and Corrects Niemann-Pick C Phenotype International journal of molecular sciences22:e15377 2021 |
| PubMed ID: 33921734 |
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| Králová J, Popr M, Valecka J, Bartunek P, Sterolight as imaging tool to study sterol uptake, trafficking and efflux in living cells Scientific reports12:6264 2021 |
| PubMed ID: 35428843 |
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| Torres S, Solsona-Vilarrasa E, Nuñez S, Matías N, Insausti-Urkia N, Castro F, Casasempere M, Fabriás G, Casas J, Enrich C, Fernández-Checa JC, Garcia-Ruiz C, Acid ceramidase improves mitochondrial function and oxidative stress in Niemann-Pick type C disease by repressing STARD1 expression and mitochondrial cholesterol accumulation Redox biology45:102052 2021 |
| PubMed ID: 34175669 |
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| Ashikawa H, Mogi H, Honda T, Nakamura H, Murayama T, Beneficial effects of primidone in Niemann-Pick disease type C (NPC)-model cells and mice: Reduction of unesterified cholesterol levels in cells and extension of lifespan in mice European journal of pharmacology896:173907 2020 |
| PubMed ID: 33503462 |
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| Hong S, Lee SE, Kang I, Yang J, Kim H, Kim J, Kang KS, Induced neural stem cells from human patient-derived fibroblasts attenuate neurodegeneration in Niemann-Pick type C mice Journal of veterinary science22:e7 2020 |
| PubMed ID: 33522159 |
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| Ilnytska O, Lai K, Gorshkov K, Schultz ML, Tran BN, Jeziorek M, Kunkel TJ, Azaria RD, McLoughlin HS, Waghalter M, Xu Y, Schlame M, Altan-Bonnet N, Zheng W, Lieberman AP, Dobrowolski R, Storch J, Enrichment of NPC1-deficient cells with the lipid LBPA stimulates autophagy, improves lysosomal function, and reduces cholesterol storage The Journal of biological chemistry22:100813 2020 |
| PubMed ID: 34023384 |
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| Juhl AD, Heegaard CW, Werner S, Schneider G, Krishnan K, Covey DF, Wüstner D, Quantitative imaging of membrane contact sites for sterol transfer between endo-lysosomes and mitochondria in living cells Scientific reports11:8927 2020 |
| PubMed ID: 33903617 |
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| Jurášek M, Valecka J, Novotný I, Kejík Z, Fähnrich J, Marešová A, Tauchen J, Bartunek P, Dolenský B, Jakubek M, Drašar PB, Králová J, Synthesis and biological evaluation of cationic TopFluor cholesterol analogues Bioorganic chemistry117:105410 2020 |
| PubMed ID: 34700109 |
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| Králová J, Jurášek M, Mikšátková L, Marešová A, Fähnrich J, Cihlárová P, Drašar P, Bartunek P, Král V, Influence of fluorophore and linker length on the localization and trafficking of fluorescent sterol probes Scientific reports10:22053 2020 |
| PubMed ID: 33328481 |
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| Lee SE, Shin N, Kook MG, Kong D, Kim NG, Choi SW, Kang KS, Human iNSC-derived brain organoid model of lysosomal storage disorder in Niemann-Pick disease type C Cell death & disease11:1059 2020 |
| PubMed ID: 33311479 |
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| Meneses-Salas E, García-Melero A, Blanco-Muñoz P, Jose J, Brenner MS, Lu A, Tebar F, Grewal T, Rentero C, Enrich C, Selective Degradation Permits a Feedback Loop Controlling Annexin A6 and Cholesterol Levels in Endolysosomes of NPC1 Mutant Cells Cells9:1059 2020 |
| PubMed ID: 32392809 |
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| Subramanian K, Hutt DM, Scott SM, Gupta V, Mao S, Balch WE, Correction of Niemann-Pick type C1 trafficking and activity with the histone deacetylase inhibitor valproic acid The Journal of biological chemistry9:1059 2020 |
| PubMed ID: 32354745 |
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| Erickson RP, Aras S, Purandare N, Hüttemann M, Liu J, Dragotto J, Fiorenza MT, Grossman LI, Decreased membrane cholesterol in liver mitochondria of the point mutation mouse model of juvenile Niemann-Pick C1, Npc1 Mitochondrion51:15-21 2019 |
| PubMed ID: 31862414 |
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| Gupta A, Rivera-Molina F, Xi Z, Toomre D, Schepartz A, Endosome motility defects revealed at super-resolution in live cells using HIDE probes Nature chemical biology51:15-21 2019 |
| PubMed ID: 32094922 |
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| Lim CY, Davis OB, Shin HR, Zhang J, Berdan CA, Jiang X, Counihan JL, Ory DS, Nomura DK, Zoncu R, ER-lysosome contacts enable cholesterol sensing by mTORC1 and drive aberrant growth signalling in Niemann-Pick type C Nature cell biology21:1206-1218 2019 |
| PubMed ID: 31548609 |
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| McCauliff LA, Langan A, Li R, Ilnytska O, Bose D, Waghalter M, Lai K, Kahn PC, Storch J, Intracellular cholesterol trafficking is dependent upon NPC2 interaction with Lysobisphosphatidic Acid eLife8:1206-1218 2019 |
| PubMed ID: 31580258 |
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| Schultz ML, Fawaz MV, Azaria RD, Hollon TC, Liu EA, Kunkel TJ, Halseth TA, Krus KL, Ming R, Morin EE, McLoughlin HS, Bushart DD, Paulson HL, Shakkottai VG, Orringer DA, Schwendeman AS, Lieberman AP, Synthetic high-density lipoprotein nanoparticles for the treatment of Niemann-Pick diseases BMC medicine17:200 2019 |
| PubMed ID: 31711490 |
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| Singhal A, Krystofiak ES, Jerome WG, Song B, 2-Hydroxypropyl-gamma-cyclodextrin overcomes NPC1 deficiency by enhancing lysosome-ER association and autophagy Scientific reports10:8663 2019 |
| PubMed ID: 32457374 |
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| Ashutosh Singhal, Lajos Szente, James E. K. Hildreth & Byeongwoon Song, Hydroxypropyl-beta and -gamma cyclodextrins rescue cholesterol accumulation in Niemann–Pick C1 mutant cell via lysosome-associated membrane protein 1 Cell Death and Disease9:1019 2018 |
| PubMed ID: 30282967 |
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| Flint M, Chatterjee P, Lin DL, McMullan LK, Shrivastava-Ranjan P, Bergeron É, Lo MK, Welch SR, Nichol ST, Tai AW, Spiropoulou CF, A genome-wide CRISPR screen identifies N-acetylglucosamine-1-phosphate transferase as a potential antiviral target for Ebola virus Nature communications10:285 2018 |
| PubMed ID: 30655525 |
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| Wheeler S, Haberkant P, Bhardwaj M, Tongue P, Ferraz MJ, Halter D, Sprong H, Schmid R, Aerts JMFG, Sullo N, Sillence DJ, Cytosolic glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease Neurobiology of disease127:242-252 2018 |
| PubMed ID: 30872158 |
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| Höglinger D, Burgoyne T, Sanchez-Heras E, Hartwig P, Colaco A, Newton J, Futter CE, Spiegel S, Platt FM, Eden ER, NPC1 regulates ER contacts with endocytic organelles to mediate cholesterol egress Nature communications10:4276 2017 |
| PubMed ID: 31537798 |
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| Schultz ML, Krus KL, Kaushik S, Dang D, Chopra R, Qi L, Shakkottai VG, Cuervo AM, Lieberman AP, Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD Nature communications9:3671 2017 |
| PubMed ID: 30202070 |
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| Willett R, Martina JA, Zewe JP, Wills R, Hammond GRV, Puertollano R, TFEB regulates lysosomal positioning by modulating TMEM55B expression and JIP4 recruitment to lysosomes Nature communications8:1580 2017 |
| PubMed ID: 29146937 |
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| Zhao K, van der Spoel A, Castiglioni C, Gale S, Fujiwara H, Ory DS, Ridgway ND, 19q1312 microdeletion syndrome fibroblasts display abnormal storage of cholesterol and sphingolipids in the endo-lysosomal system Biochimica et biophysica acta1864:2108-2118 2017 |
| PubMed ID: 29580926 |
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| Salman A, Cougnoux A, Farhat N, Wassif CA, Porter FD, Association of NPC1 variant pP237S with a pathogenic splice variant in two Niemann-Pick disease type C1 patients American journal of medical genetics Part A173:1038-1040 2016 |
| PubMed ID: 28328115 |
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| Maetzel D, Sarkar S, Wang H, Abi-Mosleh L, Xu P, Cheng AW, Gao Q, Mitalipova M, Jaenisch R, Genetic and chemical correction of cholesterol accumulation and impaired autophagy in hepatic and neural cells derived from Niemann-Pick Type C patient-specific iPS cells Stem cell reports2:866-80 2014 |
| PubMed ID: 24936472 |
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| Yu D, Swaroop M, Wang M, Baxa U, Yang R, Yan Y, Coksaygan T, DeTolla L, Marugan JJ, Austin CP, McKew JC, Gong DW, Zheng W, Niemann-Pick Disease Type C: Induced Pluripotent Stem Cell-Derived Neuronal Cells for Modeling Neural Disease and Evaluating Drug Efficacy Journal of biomolecular screening19:1164-73 2014 |
| PubMed ID: 24907126 |
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| Xu M, Liu K, Swaroop M, Sun W, Dehdashti SJ, McKew JC, Zheng W, A phenotypic compound screening assay for lysosomal storage diseases Journal of biomolecular screening19:168-75 2013 |
| PubMed ID: 23983233 |
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| Swaroop M1, Thorne N, Rao MS, Austin CP, McKew JC, Zheng W., Evaluation of cholesterol reduction activity of methyl-β-cyclodextrin using differentiated human neurons and astrocytes. J Biomol Screen17(9):1243-51 2012 |
| PubMed ID: 22923786 |
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| Wehrmann ZT, Hulett TW, Huegel KL, Vaughan KT, Wiest O, Helquist P, Goodson H, Quantitative comparison of the efficacy of various compounds in lowering intracellular cholesterol levels in Niemann-Pick type C fibroblasts PloS one7:e48561 2012 |
| PubMed ID: 23144769 |
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| Xu M1, Liu K, Swaroop M, Porter FD, Sidhu R, Firnkes S, Ory DS, Marugan JJ, Xiao J, Southall N, Pavan WJ, Davidson C, Walkley SU, Remaley AT, Baxa U, Sun W, McKew JC, Austin CP, Zheng W., δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders. J Biol Chem287(47):39349-60 2012 |
| PubMed ID: 23035117 |
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| Brett CL, Kallay L, Hua Z, Green R, Chyou A, Zhang Y, Graham TR, Donowitz M, Rao R, Genome-wide analysis reveals the vacuolar pH-stat of Saccharomyces cerevisiae PloS one6:e17619 2011 |
| PubMed ID: 21423800 |
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| Ahras M, Naing T, McPherson R, Scavenger receptor class B type I localizes to a late endosomal compartment Journal of lipid research49:1569-76 2008 |
| PubMed ID: 18375996 |
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| Laliberte JP, McGinnes LW, Morrison TG, Incorporation of functional HN-F glycoprotein-containing complexes into newcastle disease virus is dependent on cholesterol and membrane lipid raft integrity Journal of virology81:10636-48 2007 |
| PubMed ID: 17652393 |
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| Yamauchi Y, Reid PC, Sperry JB, Furukawa K, Takeya M, Chang CC, Chang TY, Plasma membrane rafts complete cholesterol synthesis by participating in retrograde movement of precursor sterols The Journal of biological chemistry282:34994-5004 2007 |
| PubMed ID: 17916561 |
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| Ganley IG, Pfeffer SR, Cholesterol accumulation sequesters Rab9 and disrupts late endosome function in NPC1-deficient cells The Journal of biological chemistry281:17890-9 2006 |
| PubMed ID: 16644737 |
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| Linder MD, Uronen RL, Hölttä-Vuori M, van der Sluijs P, Peränen J, Ikonen E, Rab8-dependent recycling promotes endosomal cholesterol removal in normal and sphingolipidosis cells Molecular biology of the cell18:47-56 2006 |
| PubMed ID: 17050734 |
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| Chen FW, Gordon RE, Ioannou YA, NPC1 late endosomes contain elevated levels of non-esterified ('free') fatty acids and an abnormally glycosylated form of the NPC2 protein The Biochemical journal390:549-61 2005 |
| PubMed ID: 15896196 |
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| Narita K, Choudhury A, Dobrenis K, Sharma DK, Holicky EL, Marks DL, Walkley SU, Pagano RE, Protein transduction of Rab9 in Niemann-Pick C cells reduces cholesterol storage The FASEB journal : official publication of the Federation of American Societies for Experimental Biology19:1558-60 2005 |
| PubMed ID: 15972801 |
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| Passeggio J, Liscum L, Flux of fatty acids through NPC1 lysosomes The Journal of biological chemistry280:10333-9 2005 |
| PubMed ID: 15632139 |
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| Choudhury A, Sharma DK, Marks DL, Pagano RE, ted Endosomal Cholesterol in Niemann-Pick Cells Inhibits Rab4 and Perturbs Membrane Recycling. Mol Biol CellEpub ahead of print:10333-9 2004 |
| PubMed ID: 15292453 |
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| Scott C, Higgins ME, Davies JP, Ioannou YA, Targeting of NPC1 to late endosomes involves multiple signals, including one residing within the putative sterol-sensing domain The Journal of biological chemistry279:48214-23 2004 |
| PubMed ID: 15347664 |
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| White NM, Corey DA, Kelley TJ, Mechanistic similarities between cultured cell models of cystic fibrosis and Niemann-Pick type C. Am J Respir Cell Mol BiolEpub ahead of print:48214-23 2004 |
| PubMed ID: 15256387 |
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| Choi HY, Karten B, Chan T, Vance JE, Greer WL, Heidenreich RA, Garver WS, Francis GA, Impaired ABCA1-dependent lipid efflux and hypoalphalipoproteinemia in human Niemann-Pick type C disease. J Biol Chem278(35):32569-77 2003 |
| PubMed ID: 12813037 |
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| Umeda A, Fujita H, Kuronita T, Hirosako K, Himeno M, Tanaka Y, Distribution and trafficking of MPR300 is normal in cells with cholesterol accumulated in late endocytic compartments: evidence for early endosome-to-TGN trafficking of MPR300. J Lipid Res44(10):1821-32 2003 |
| PubMed ID: 12867541 |
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| Walter M, Davies JP, Ioannou YA, Telomerase immortalization upregulates Rab9 expression and restores LDL cholesterol egress from Niemann-Pick C1 late endosomes. J Lipid Res44(2):243-53 2003 |
| PubMed ID: 12576506 |
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| Choudhury A, Dominguez M, Puri V, Sharma DK, Narita K, Wheatley CL, Marks DL, Pagano RE, Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells. J Clin Invest109(12):1541-50 2002 |
| PubMed ID: 12070301 |
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| Kruth HS, Ifrim I, Chang J, Addadi L, Perl-Treves D, Zhang WY, Monoclonal antibody detection of plasma membrane cholesterol microdomains responsive to cholesterol trafficking. J Lipid Res42(9):1492-500 2001 |
| PubMed ID: 11518770 |
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| Sun X, Marks DL, Park WD, Wheatley CL, Puri V, O'Brien JF, Kraft DL, Lundquist PA, Patterson MC, Pagano RE, Snow K, Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. Am J Hum Genet68(6):1361-72 2001 |
| PubMed ID: 11349231 |
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correlation between clinical onset and levels of NPC1 protein in isolated skin
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| PubMed ID: 11182931 |
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| Yamamoto T, Nanba E, Ninomiya H, Higaki K, Taniguchi M, Zhang H, Akaboshi S, Watanabe Y, Takeshima T, Inui K, Okada S, Tanaka A, Sakuragawa N, Millat G, Vanier MT, Morris JA, Pentchev PG, Ohno K, NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. Hum Genet105:10-6 1999 |
| PubMed ID: 10480349 |
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| PubMed ID: 9207099 |
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| Liscum L, Faust JR, The intracellular transport of low density lipoprotein-derived cholesterol is
inhibited in Chinese hamster ovary cells cultured with
3-beta-[2-(diethylamino)ethoxy]androst-5-en-17-one. J Biol Chem264(20):11796-806 1989 |
| PubMed ID: 2745416 |
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| Liscum L, Faust JR, Low density lipoprotein (LDL)-mediated suppression of cholesterol synthesis and LDL uptake is defective in Niemann-Pick type C fibroblasts. J Biol Chem262:17002-8 1987 |
| PubMed ID: 3680287 |
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| Pentchev PG, Comly ME, Kruth HS, Patel S, Proestel M, Weintroub H, The cholesterol storage disorder of the mutant BALB/c mouse. A primary genetic lesion closely linked to defective esterification of exogenously derived cholesterol and its relationship to human type C Niemann-Pick disease. J Biol Chem261:2772-7 1986 |
| PubMed ID: 3949747 |
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| Pentchev PG, Comly ME, Kruth HS, Vanier MT, Wenger DA, Patel S, Brady RO, A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. Proc Natl Acad Sci U S A82:8247-51 1985 |
| PubMed ID: 3865225 |
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| Maziere JC, Maziere C, Mora L, Routier JD, Polonovski J, In situ degradation of sphingomyelin by cultured normal fibroblasts and fibroblasts from patients with Niemann-Pick disease type A and C. Biochem Biophys Res Commun108:1101-6 1982 |
| PubMed ID: 7181884 |
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