Literature DB >> 6681549

Dolichols in brain and urinary sediment in neuronal ceroid lipofuscinosis.

L S Wolfe, N M Ng Ying Kin, J Palo, M Haltia.   

Abstract

Long-chain polyisoprenoid alcohols (dolichols) increase more than tenfold from age 5 to 80 years in human cerebral cortex. The dolichol content of brain from infantile, late infantile, and juvenile forms of neuronal ceroid lipofuscinosis (NCL) was significantly higher than in age-matched patients with other neurologic diseases. Significant increase of dolichols was also found in the urinary sediment in all three types of NCL patients, and this test is useful in making the diagnosis. Dolichol accumulation is the first biochemical marker of NCL and seems to parallel storage of ceroid lipofuscin.

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Year:  1983        PMID: 6681549     DOI: 10.1212/wnl.33.1.103

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  13 in total

1.  Life with too much polyprenol: polyprenol reductase deficiency.

Authors:  J E H Gründahl; Z Guan; S Rust; J Reunert; B Müller; I Du Chesne; K Zerres; S Rudnik-Schöneborn; N Ortiz-Brüchle; M G Häusler; J Siedlecka; E Swiezewska; C R H Raetz; T Marquardt
Journal:  Mol Genet Metab       Date:  2011-12-29       Impact factor: 4.797

2.  Building a cathedral: neuroscience and the legacy of Leon Wolfe.

Authors:  Matthew W Spence
Journal:  Mol Neurobiol       Date:  2005-08       Impact factor: 5.590

3.  Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.

Authors:  Carolina Courage; Karen L Oliver; Eon Joo Park; Jillian M Cameron; Kariona A Grabińska; Mikko Muona; Laura Canafoglia; Antonio Gambardella; Edith Said; Zaid Afawi; Betul Baykan; Christian Brandt; Carlo di Bonaventura; Hui Bein Chew; Chiara Criscuolo; Leanne M Dibbens; Barbara Castellotti; Patrizia Riguzzi; Angelo Labate; Alessandro Filla; Anna T Giallonardo; Geza Berecki; Christopher B Jackson; Tarja Joensuu; John A Damiano; Sara Kivity; Amos Korczyn; Aarno Palotie; Pasquale Striano; Davide Uccellini; Loretta Giuliano; Eva Andermann; Ingrid E Scheffer; Roberto Michelucci; Melanie Bahlo; Silvana Franceschetti; William C Sessa; Samuel F Berkovic; Anna-Elina Lehesjoki
Journal:  Am J Hum Genet       Date:  2021-04-01       Impact factor: 11.025

4.  Blood lymphocytes in neuronal ceroid lipofuscinosis.

Authors:  A Simonati; N Rizzuto
Journal:  Ital J Neurol Sci       Date:  1988-06

5.  A micromethod for the estimation of blood dolichol.

Authors:  G N Morris; R K Pullarkat
Journal:  Lipids       Date:  1987-01       Impact factor: 1.880

6.  Lectin histochemistry in brains with juvenile form of neuronal ceroid-lipofuscinosis (Batten disease).

Authors:  K E Wisniewski; D Maslinska
Journal:  Acta Neuropathol       Date:  1990       Impact factor: 17.088

7.  Dolichol metabolism in cultured skin fibroblasts from patients with "neuronal" ceroid lipofuscinosis (Batten's disease).

Authors:  B C Paton; A Poulos
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

8.  A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews.

Authors:  Lina Zelinger; Eyal Banin; Alexey Obolensky; Liliana Mizrahi-Meissonnier; Avigail Beryozkin; Dikla Bandah-Rozenfeld; Shahar Frenkel; Tamar Ben-Yosef; Saul Merin; Sharon B Schwartz; Artur V Cideciyan; Samuel G Jacobson; Dror Sharon
Journal:  Am J Hum Genet       Date:  2011-02-03       Impact factor: 11.025

9.  Normal dolichol concentration in urine sediments from four patients with neuronal ceroid lipofuscinosis (Batten's disease).

Authors:  B C Paton; A Poulos
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

10.  Glial filaments are a major brain fraction in infantile neuronal ceroid-lipofuscinosis.

Authors:  A Paetau; I Elovaara; R Paasivuo; I Virtanen; J Palo; M Haltia
Journal:  Acta Neuropathol       Date:  1985       Impact factor: 17.088

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