Reference on EC 4.2.1.2 - fumarate hydratase and Organism(s) Homo sapiens and UniProt Accession P07954
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AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Estevez, M.; Skarda, J.; Spencer, J.; Banaszak, L.; Weaver, T.M.
X-ray crystallographic and kinetic correlation of a clinically observed human fumarase mutation
Protein Sci.
11
1552-1557
2002
Homo sapiens, Escherichia coli (P05042), Escherichia coli
Lehtonen, R.; Kiuru, M.; Vanharanta, S.; Sjoeberg, J.; Aaltonen, L.M.; Aittomaeki, K.; Arola, J.; Butzow, R.; Eng, C.; Husgafvel-Pursiainen, K.; Isola, J.; Jaervinen, H.; Koivisto, P.; Mecklin, J.P.; Peltomaeki, P.; Salovaara, R.; Wasenius, V.M.; Karhu, A.; Launonen, V.; Nupponen, N.N.; Aaltonen, L.A.
Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors
Am. J. Pathol.
164
17-22
2004
Homo sapiens
Gross, K.L.; Panhuysen, C.I.; Kleinman, M.S.; Goldhammer, H.; Jones, E.S.; Nassery, N.; Stewart, E.A.; Morton, C.C.
Involvement of fumarate hydratase in nonsyndromic uterine leiomyomas: genetic linkage analysis and FISH studies
Genes Chromosomes Cancer
41
183-190
2004
Homo sapiens
Alam, N.A.; Olpin, S.; Rowan, A.; Kelsell, D.; Leigh, I.M.; Tomlinson, I.P.; Weaver, T.
Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer
J. Mol. Diagn.
7
437-443
2005
Homo sapiens
Remes, A.M.; Filppula, S.A.; Rantala, H.; Leisti, J.; Ruokonen, A.; Sharma, S.; Juffer, A.H.; Hiltunen, J.K.
A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency
J. Mol. Med.
82
550-554
2004
Homo sapiens
Singh, B.; Gupta, R.S.
Mitochondrial import of human and yeast fumarase in live mammalian cells: retrograde translocation of the yeast enzyme is mainly caused by its poor targeting sequence
Biochem. Biophys. Res. Commun.
346
911-918
2006
Homo sapiens (P07954), Homo sapiens, Saccharomyces cerevisiae (P08417), Saccharomyces cerevisiae
Lehtonen, H.J.; Blanco, I.; Piulats, J.M.; Herva, R.; Launonen, V.; Aaltonen, L.A.
Conventional renal cancer in a patient with fumarate hydratase mutation
Hum. Pathol.
38
793-796
2007
Homo sapiens
Ylisaukko-oja, S.K.; Kiuru, M.; Lehtonen, H.J.; Lehtonen, R.; Pukkala, E.; Arola, J.; Launonen, V.; Aaltonen, L.A.
Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients
Int. J. Cancer
119
283-287
2006
Homo sapiens
Carvajal-Carmona, L.G.; Alam, N.A.; Pollard, P.J.; Jones, A.M.; Barclay, E.; Wortham, N.; Pignatelli, M.; Freeman, A.; Pomplun, S.; Ellis, I.; Poulsom, R.; El-Bahrawy, M.A.; Berney, D.M.; Tomlinson, I.P.
Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations
J. Clin. Endocrinol. Metab.
91
3071-3075
2006
Homo sapiens
Pithukpakorn, M.; Wei, M.H.; Toure, O.; Steinbach, P.J.; Glenn, G.M.; Zbar, B.; Linehan, W.M.; Toro, J.R.
Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer
J. Med. Genet.
43
755-762
2006
Homo sapiens
King, A.; Selak, M.A.; Gottlieb, E.
Succinate dehydrogenase and fumarate hydratase: linking mitochondrial dysfunction and cancer
Oncogene
25
4675-4682
2006
Homo sapiens
Raimundo, N.; Ahtinen, J.; Fumic, K.; Baric, I.; Remes, A.M.; Renkonen, R.; Lapatto, R.; Suomalainen, A.
Differential metabolic consequences of fumarate hydratase and respiratory chain defects
Biochim. Biophys. Acta
1782
287-294
2008
Homo sapiens
Bayley, J.; Launonen, V.; Tomlinson, I.P.
The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency
BMC Med. Genet.
9
20
2008
Homo sapiens
Ahvenainen, T.; Lehtonen, H.J.; Lehtonen, R.; Vahteristo, P.; Aittomaeki, K.; Baynam, G.; Dommering, C.; Eng, C.; Gruber, S.B.; Groenberg, H.; Harvima, R.; Herva, R.; Hietala, M.; Kujala, M.; Kaeaeriaeinen, H.; Sunde, L.; Vierimaa, O.; Pollard, P.J.; Tomlinson, I.P.; Bjoerck, E.; Aaltonen, L.A.; Launonen, V.
Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer
Cancer genet. Cytogenet.
183
83-88
2008
Homo sapiens
Lorenzato, A.; Olivero, M.; Perro, M.; Briere, J.J.; Rustin, P.; Di Renzo, M.F.
A cancer-predisposing "hot spot" mutation of the fumarase gene creates a dominant negative protein
Int. J. Cancer
122
947-951
2008
Homo sapiens
Badeloe, S.; Bladergroen, R.S.; Jonkman, M.F.; Burrows, N.P.; Steijlen, P.M.; Poblete-Gutierrez, P.; van Steensel, M.A.; van Geel, M.; Frank, J.
Hereditary multiple cutaneous leiomyoma resulting from novel mutations in the fumarate hydratase gene
J. Dermatol. Sci.
51
139-143
2008
Homo sapiens
Yogev, O.; Yogev, O.; Singer, E.; Shaulian, E.; Goldberg, M.; Fox, T.D.; Pines, O.
Fumarase: a mitochondrial metabolic enzyme and a cytosolic/nuclear component of the DNA damage response
PLoS Biol.
8
e1000328
2010
Saccharomyces cerevisiae, Homo sapiens
Adam, J.; Yang, M.; Bauerschmidt, C.; Kitagawa, M.; OFlaherty, L.; Maheswaran, P.; Oezkan, G.; Sahgal, N.; Baban, D.; Kato, K.; Saito, K.; Iino, K.; Igarashi, K.; Stratford, M.; Pugh, C.; Tennant, D.A.; Ludwig, C.; Davies, B.; Ratcliffe, P.J.; El-Bahrawy, M.; Ashrafian, H.; Soga, T.; Pollard, P.J.
A role for cytosolic fumarate hydratase in urea cycle metabolism and renal neoplasia
Cell Rep.
3
1440-1448
2013
Homo sapiens
Pereira De Padua, R.; Nonato, M.
Cloning, expression, purification, crystallization and preliminary X-ray diffraction analysis of recombinant human fumarase
Acta Crystallogr. Sect. F
70
120-122
2014
Homo sapiens (P07954), Homo sapiens
