Methylamine accumulation in cultured cells as a measure of the aqueous storage compartment in the laboratory diagnosis of genetic lysosomal diseases
Intracellular accumulation of the lysosomotropic compound [14C]methylamine was used to estimate the size of the lysosomal compartment in fibroblasts cultured from patients with a variety of lysosomal storage diseases. In previous work from our laboratory, it was shown that methylamine accumulation w...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article (Journal) |
| Language: | English |
| Published: |
3 May 1996
|
| In: |
American journal of medical genetics
Year: 1996, Volume: 63, Issue: 1, Pages: 198-202 |
| ISSN: | 1096-8628 |
| DOI: | 10.1002/(SICI)1096-8628(19960503)63:1<198::AID-AJMG35>3.0.CO;2-H |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1002/(SICI)1096-8628(19960503)63:1<198::AID-AJMG35>3.0.CO;2-H Verlag, lizenzpflichtig, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/%28SICI%291096-8628%2819960503%2963%3A1%3C198%3A%3AAID-AJMG35%3E3.0.CO%3B2-H 
|
| Author Notes: | Jürgen Kopitz, Klaus Harzer, Alfried Kohlschütter, Barbara Zöller, Nahid Blenck, Michael Cantz |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1895043417 | ||
| 003 | DE-627 | ||
| 005 | 20241205151046.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 240710s1996 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1002/(SICI)1096-8628(19960503)63:1<198::AID-AJMG35>3.0.CO;2-H |2 doi | |
| 035 | |a (DE-627)1895043417 | ||
| 035 | |a (DE-599)KXP1895043417 | ||
| 035 | |a (OCoLC)1475302127 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Kopitz, Jürgen |e VerfasserIn |0 (DE-588)1033923397 |0 (DE-627)743674472 |0 (DE-576)16530393X |4 aut | |
| 245 | 1 | 0 | |a Methylamine accumulation in cultured cells as a measure of the aqueous storage compartment in the laboratory diagnosis of genetic lysosomal diseases |c Jürgen Kopitz, Klaus Harzer, Alfried Kohlschütter, Barbara Zöller, Nahid Blenck, Michael Cantz |
| 264 | 1 | |c 3 May 1996 | |
| 300 | |a 5 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Elektronische Reproduktion der Druck-Ausgabe 6. Dezember 1998 | ||
| 500 | |a Gesehen am 10.07.2024 | ||
| 520 | |a Intracellular accumulation of the lysosomotropic compound [14C]methylamine was used to estimate the size of the lysosomal compartment in fibroblasts cultured from patients with a variety of lysosomal storage diseases. In previous work from our laboratory, it was shown that methylamine accumulation was significantly increased in diseases with infantile or juvenile onset and storage of predominantly water-soluble material such as in the mucopolysaccharidoses, mucolipidoses, and oligosaccharidoses. In the present study, methylamine incorporation was abnormally increased in cells from patients with glycogenosis type II and with Niemann-Pick type C disease, whereas it was normal in other sphingolipidoses and in the late-infantile and juvenile forms of neuronal ceroid lipofuscinoses. The methylamine test was also checked regarding its potential use for prenatal diagnostic testing. In model systems with cultured amniotic or chorionic villus cells, lysosomal storage was experimentally induced by the cathepsin inhibitor leupeptin and was readily detected when compared to untreated controls. Cultured amniotic cells from a fetus with mucopolysaccharidosis II were found to incorporate significantly higher amounts of [14C]methylamine than the normal controls. The results indicate that the methylamine accumulation method is an additional tool in the diagnosis and prenatal diagnosis of lysosomal diseases with abnormal storage of water-soluble material. © 1996 Wiley-Liss, Inc. | ||
| 650 | 4 | |a diagnosis | |
| 650 | 4 | |a glycogenosis II | |
| 650 | 4 | |a lysosomal disease | |
| 650 | 4 | |a mucolipidosis | |
| 650 | 4 | |a mucopolysaccharidosis | |
| 650 | 4 | |a neuronal ceroid lipofuscinosis | |
| 650 | 4 | |a Niemann-Pick type C | |
| 650 | 4 | |a oligosaccharidosis | |
| 700 | 1 | |a Harzer, Klaus |e VerfasserIn |4 aut | |
| 700 | 1 | |a Kohlschütter, Alfried |e VerfasserIn |4 aut | |
| 700 | 1 | |a Zöller, Barbara |e VerfasserIn |4 aut | |
| 700 | 1 | |a Blenck, Nahid |e VerfasserIn |4 aut | |
| 700 | 1 | |a Cantz, Michael |e VerfasserIn |0 (DE-588)1141606402 |0 (DE-627)1000491374 |0 (DE-576)494433418 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t American journal of medical genetics |d Hoboken, NJ : Wiley-Liss, 1977 |g 63(1996), 1, Seite 198-202 |h Online-Ressource |w (DE-627)501077952 |w (DE-600)2205916-7 |w (DE-576)277978955 |x 1096-8628 |7 nnas |a Methylamine accumulation in cultured cells as a measure of the aqueous storage compartment in the laboratory diagnosis of genetic lysosomal diseases |
| 773 | 1 | 8 | |g volume:63 |g year:1996 |g number:1 |g pages:198-202 |g extent:5 |a Methylamine accumulation in cultured cells as a measure of the aqueous storage compartment in the laboratory diagnosis of genetic lysosomal diseases |
| 856 | 4 | 0 | |u https://doi.org/10.1002/(SICI)1096-8628(19960503)63:1<198::AID-AJMG35>3.0.CO;2-H |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 856 | 4 | 0 | |u https://onlinelibrary.wiley.com/doi/abs/10.1002/%28SICI%291096-8628%2819960503%2963%3A1%3C198%3A%3AAID-AJMG35%3E3.0.CO%3B2-H |x Verlag |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20240710 | ||
| 993 | |a Article | ||
| 994 | |a 1996 | ||
| 998 | |g 1141606402 |a Cantz, Michael |m 1141606402:Cantz, Michael |d 910000 |d 912000 |e 910000PC1141606402 |e 912000PC1141606402 |k 0/910000/ |k 1/910000/912000/ |p 6 |y j | ||
| 998 | |g 1033923397 |a Kopitz, Jürgen |m 1033923397:Kopitz, Jürgen |d 910000 |d 912000 |e 910000PK1033923397 |e 912000PK1033923397 |k 0/910000/ |k 1/910000/912000/ |p 1 |x j | ||
| 999 | |a KXP-PPN1895043417 |e 4548909931 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"type":{"media":"Online-Ressource","bibl":"article-journal"},"id":{"eki":["1895043417"],"doi":["10.1002/(SICI)1096-8628(19960503)63:1<198::AID-AJMG35>3.0.CO;2-H"]},"name":{"displayForm":["Jürgen Kopitz, Klaus Harzer, Alfried Kohlschütter, Barbara Zöller, Nahid Blenck, Michael Cantz"]},"note":["Elektronische Reproduktion der Druck-Ausgabe 6. Dezember 1998","Gesehen am 10.07.2024"],"physDesc":[{"extent":"5 S."}],"person":[{"given":"Jürgen","family":"Kopitz","roleDisplay":"VerfasserIn","display":"Kopitz, Jürgen","role":"aut"},{"family":"Harzer","given":"Klaus","roleDisplay":"VerfasserIn","display":"Harzer, Klaus","role":"aut"},{"roleDisplay":"VerfasserIn","given":"Alfried","family":"Kohlschütter","role":"aut","display":"Kohlschütter, Alfried"},{"display":"Zöller, Barbara","role":"aut","given":"Barbara","family":"Zöller","roleDisplay":"VerfasserIn"},{"role":"aut","display":"Blenck, Nahid","roleDisplay":"VerfasserIn","family":"Blenck","given":"Nahid"},{"family":"Cantz","given":"Michael","roleDisplay":"VerfasserIn","display":"Cantz, Michael","role":"aut"}],"title":[{"title_sort":"Methylamine accumulation in cultured cells as a measure of the aqueous storage compartment in the laboratory diagnosis of genetic lysosomal diseases","title":"Methylamine accumulation in cultured cells as a measure of the aqueous storage compartment in the laboratory diagnosis of genetic lysosomal diseases"}],"recId":"1895043417","relHost":[{"type":{"bibl":"periodical","media":"Online-Ressource"},"id":{"zdb":["2205916-7"],"eki":["501077952"],"issn":["1096-8628"],"doi":["10.1002/(ISSN)1096-8628"]},"part":{"issue":"1","extent":"5","text":"63(1996), 1, Seite 198-202","volume":"63","year":"1996","pages":"198-202"},"note":["Gesehen am 16.05.2018","Darin ab 48.1993: Neuropsychiatric genetics; ab 89.1999: Seminars in medical genetics"],"titleAlt":[{"title":"Neuropsychiatric genetics"},{"title":"Seminars in medical genetics"},{"title":"Neuropsychiatric genetics"},{"title":"Seminars in medical genetics"}],"physDesc":[{"extent":"Online-Ressource"}],"disp":"Methylamine accumulation in cultured cells as a measure of the aqueous storage compartment in the laboratory diagnosis of genetic lysosomal diseasesAmerican journal of medical genetics","title":[{"title":"American journal of medical genetics","title_sort":"American journal of medical genetics"}],"pubHistory":["1.1977/78 - 115.2002"],"recId":"501077952","language":["eng"],"origin":[{"publisher":"Wiley-Liss ; Liss","publisherPlace":"Hoboken, NJ ; New York, NY","dateIssuedKey":"1977","dateIssuedDisp":"1977-2002"}]}],"language":["eng"],"origin":[{"dateIssuedKey":"1996","dateIssuedDisp":"3 May 1996"}]} | ||
| SRT | |a KOPITZJUERMETHYLAMIN3199 | ||