“Fucosidase”的意思、由来-开放百科全书

Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Different phenotypes include clinical features such as neurologic deterioration, growth retardation, visceromegaly, and seizures in a severe early form; coarse facial features, angiokeratoma corporis diffusum, spasticity and delayed psychomotor development in a longer surviving form; and an unusual spondylometaphyseoepiphyseal dysplasia in yet another form.[supplied by OMIM]^[2]

References

1. ^{{cite journal |vauthors=Occhiodoro T, Beckmann KR, Morris CP, Hopwood JJ | title = Human alpha-L-fucosidase: complete coding sequence from cDNA clones | journal = Biochem. Biophys. Res. Commun. | volume = 164 | issue = 1 | pages = 439–45 |date=Nov 1989 | pmid = 2803312 | pmc = | doi =10.1016/0006-291X(89)91739-7 }}
2. ^¹{{cite web | title = Entrez Gene: FUCA1 fucosidase, alpha-L- 1, tissue| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2517| accessdate = }}
3. ^HPRD entry

Further reading

{{cite journal | author=Willems PJ |title=Fucosidosis revisited: a review of 77 patients |journal=Am. J. Med. Genet. |volume=38 |issue= 1 |pages= 111–31 |year= 1991 |pmid= 2012122 |doi= 10.1002/ajmg.1320380125 |name-list-format=vanc| author2=Gatti R | author3=Darby JK | display-authors=3 | last4=Romeo | first4=Giovanni | last5=Durand | first5=Paolo | last6=Dumon | first6=Jan E. | last7=O'Brien | first7=John S. }}

{{cite journal | author=Willems PJ |title=Spectrum of mutations in fucosidosis |journal=Eur. J. Hum. Genet. |volume=7 |issue= 1 |pages= 60–7 |year= 1999 |pmid= 10094192 |doi= 10.1038/sj.ejhg.5200272 |name-list-format=vanc| author2=Seo HC | author3=Coucke P | display-authors=3 | last4=Tonlorenzi | first4=Rossana | last5=O'Brien | first5=John S }}

{{cite journal |vauthors=Yang M, Allen H, DiCioccio RA |title=A mutation generating a stop codon in the alpha-L-fucosidase gene of a fucosidosis patient |journal=Biochem. Biophys. Res. Commun. |volume=189 |issue= 2 |pages= 1063–8 |year= 1993 |pmid= 1281988 |doi=10.1016/0006-291X(92)92312-L }}

{{cite journal |vauthors=Fukushima H, Nishimoto J, Okada S |title=Sequencing and expression of a full-length cDNA for human alpha-L-fucosidase |journal=J. Inherit. Metab. Dis. |volume=13 |issue= 5 |pages= 761–5 |year= 1991 |pmid= 2174090 |doi=10.1007/BF01799583 }}

{{cite journal |vauthors=Kretz KA, Darby JK, Willems PJ, O'Brien JS |title=Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame |journal=J. Mol. Neurosci. |volume=1 |issue= 3 |pages= 177–80 |year= 1990 |pmid= 2642067 |doi=10.1007/BF02918904 }}

{{cite journal | author=O'Brien JS |title=Molecular biology of the alpha-L-fucosidase gene and fucosidosis |journal=Enzyme |volume=38 |issue= 1–4 |pages= 45–53 |year= 1988 |pmid= 2894306 |doi= |name-list-format=vanc| author2=Willems PJ | author3=Fukushima H | display-authors=3 | last4=De Wet | first4=JR | last5=Darby | first5=JK | last6=Di Cioccio | first6=R | last7=Fowler | first7=ML | last8=Shows | first8=TB }}

{{cite journal |vauthors=Fukushima H, de Wet JR, O'Brien JS |title=Molecular cloning of a cDNA for human alpha-L-fucosidase |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=82 |issue= 4 |pages= 1262–5 |year= 1985 |pmid= 2983333 |doi=10.1073/pnas.82.4.1262 | pmc=397235 }}

{{cite journal | author=Fowler ML |title=Chromosome 1 localization of the human alpha-L-fucosidase structural gene with a homologous site on chromosome 2 |journal=Cytogenet. Cell Genet. |volume=43 |issue= 1–2 |pages= 103–8 |year= 1987 |pmid= 3780313 |doi=10.1159/000132304 |name-list-format=vanc| author2=Nakai H | author3=Byers MG | display-authors=3 | last4=Fukushima | first4=H. | last5=Eddy | first5=R.L. | last6=Henry | first6=W.M. | last7=Haley | first7=L.L. | last8=o&Rsquo;Brien | first8=J.S. | last9=Shows | first9=T.B. }}

{{cite journal |vauthors=Kido A, Komatsu N, Ose Y, Oya M |title=alpha-L-fucosidase phenotyping in human tissues, dental pulps and hair roots |journal=Forensic Sci. Int. |volume=33 |issue= 1 |pages= 53–9 |year= 1987 |pmid= 3817676 |doi=10.1016/0379-0738(87)90139-3 }}

{{cite journal |vauthors=Hopfer RL, Alhadeff JA |title=Solubilization and characterization of pellet-associated human brain alpha-L-fucosidase activity |journal=Biochem. J. |volume=229 |issue= 3 |pages= 679–85 |year= 1985 |pmid= 4052017 |doi= | pmc=1145111 }}

{{cite journal |vauthors=Johnson K, Dawson G |title=Molecular defect in processing alpha-fucosidase in fucosidosis |journal=Biochem. Biophys. Res. Commun. |volume=133 |issue= 1 |pages= 90–7 |year= 1986 |pmid= 4074382 |doi=10.1016/0006-291X(85)91845-5 }}

{{cite journal | author=de Wet JR |title=Chromogenic immunodetection of human serum albumin and alpha-L-fucosidase clones in a human hepatoma cDNA expression library |journal=DNA |volume=3 |issue= 6 |pages= 437–47 |year= 1985 |pmid= 6096099 |doi= 10.1089/dna.1.1984.3.437|name-list-format=vanc| author2=Fukushima H | author3=Dewji NN | display-authors=3 | last4=Wilcox | first4=E | last5=O'Brien | first5=JS | last6=Helinski | first6=DR }}

{{cite journal | author=Cragg H |title=Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in human alpha-L-fucosidase |journal=J. Med. Genet. |volume=31 |issue= 8 |pages= 659–60 |year= 1995 |pmid= 7815431 |doi=10.1136/jmg.31.8.659-a | pmc=1050044 |name-list-format=vanc| author2=Winchester B | author3=Seo HC | display-authors=3 | last4=O'Brien | first4=J | last5=Swallow | first5=D }}

{{cite journal |vauthors=Beyer E, Ivleva T, Artykova G, Wiederschain G |title=Change of isoforms' spectra of alpha-L-fucosidase from human skin fibroblasts in intracellular storage of nonhydrolyzable substances |journal=Biochim. Biophys. Acta |volume=1270 |issue= 1 |pages= 7–11 |year= 1995 |pmid= 7827138 |doi= 10.1016/0925-4439(94)00062-u}}

{{cite journal | author=Seo HC |title=A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient |journal=Hum. Mol. Genet. |volume=3 |issue= 11 |pages= 2065–6 |year= 1995 |pmid= 7874128 |doi= |name-list-format=vanc| author2=Yang M | author3=Tonlorenzi R | display-authors=3 | last4=Willems | first4=PJ | last5=Kim | first5=AH | last6=Filocamo | first6=M | last7=Gatti | first7=R | last8=Dicioccio | first8=RA | last9=O'Brien | first9=JS }}

{{cite journal | author=Williamson M |title=A 5' splice site mutation in fucosidosis |journal=J. Med. Genet. |volume=30 |issue= 3 |pages= 218–23 |year= 1993 |pmid= 8097260 |doi=10.1136/jmg.30.3.218 | pmc=1016303 |name-list-format=vanc| author2=Cragg H | author3=Grant J | display-authors=3 | last4=Kretz | first4=K | last5=O'Brien | first5=J | last6=Willems | first6=P J | last7=Young | first7=E | last8=Winchester | first8=B }}

{{cite journal |vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides |journal=Gene |volume=138 |issue= 1–2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8 }}

{{cite journal |vauthors=Yang M, Allen H, DiCioccio RA |title=Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family |journal=Biochim. Biophys. Acta |volume=1182 |issue= 3 |pages= 245–9 |year= 1993 |pmid= 8399358 |doi= 10.1016/0925-4439(93)90065-9}}

See also

References

Further reading

External links