2 NOVEL SEQUENCE POLYMORPHISMS OF THE HUMAN CARNITINE PALMITOYLTRANSFERASE-II (CPT1) GENE

被引：11
|
作者：
VERDERIO, E [1 ]
CAVADINI, P [1 ]
PANDOLFO, M [1 ]
DIDONATO, S [1 ]
TARONI, F [1 ]
机构：
[1] IST NAZL NEUROL CARLO BESTA,DIV BIOCHIM & GENET,VIA CELORIA 11,I-20133 MILAN,ITALY
来源：
HUMAN MOLECULAR GENETICS | 1993年 / 2卷 / 03期
关键词：
D O I：
10.1093/hmg/2.3.334
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
引用
收藏
页码：334 / 334
页数：1
相关论文
共 50 条
  • [1] ASSIGNMENT OF THE HUMAN CARNITINE PALMITOYLTRANSFERASE-II GENE (CPT1) TO CHROMOSOME-1P32
    GELLERA, C
    VERDERIO, E
    FLORIDIA, G
    FINOCCHIARO, G
    MONTERMINI, L
    CAVADINI, P
    ZUFFARDI, O
    TARONI, F
    GENOMICS, 1994, 24 (01) : 195 - 197
  • [2] IDENTIFICATION OF 5' REGULATORY REGIONS OF THE HUMAN CARNITINE PALMITOYLTRANSFERASE-II GENE
    MONTERMINI, L
    WANG, HW
    VERDERIO, E
    TARONI, F
    DIDONATO, S
    FINOCCHIARO, G
    BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION, 1994, 1219 (01): : 237 - 240
  • [3] EXPRESSION OF THE CARNITINE PALMITOYLTRANSFERASE-II GENE IN THE DEVELOPING HEART
    GELB, BD
    CIRCULATION, 1993, 88 (04) : 436 - 436
  • [4] IMMUNOQUANTITATIVE ANALYSIS OF HUMAN CARNITINE PALMITOYLTRANSFERASE-I AND PALMITOYLTRANSFERASE-II DEFECTS
    DEMAUGRE, F
    BONNEFONT, JP
    CEPANEC, C
    SCHOLTE, J
    SAUDUBRAY, JM
    LEROUX, JP
    PEDIATRIC RESEARCH, 1990, 27 (05) : 497 - 500
  • [5] CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY - STRUCTURE OF THE GENE AND CHARACTERIZATION OF 2 NOVEL DISEASE-CAUSING MUTATIONS
    VERDERIO, E
    CAVADINI, P
    MONTERMINI, L
    WANG, HW
    LAMANTEA, E
    FINOCCHIARO, G
    DIDONATO, S
    GELLERA, C
    TARONI, F
    HUMAN MOLECULAR GENETICS, 1995, 4 (01) : 19 - 29
  • [6] GENOMIC STRUCTURE OF AND A CARDIAC PROMOTER FOR THE MOUSE CARNITINE PALMITOYLTRANSFERASE-II GENE
    GELB, BD
    GENOMICS, 1993, 18 (03) : 651 - 655
  • [7] A common mutation in carnitine palmitoyltransferase 1 (CPT1) deficiency in Finland: A report of 5 cases
    Roomets, E.
    Tyni, T.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 : 52 - 52
  • [8] A CASE OF CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY IN HUMAN SKELETAL-MUSCLE
    SINGH, R
    SHEPHERD, IM
    DERRICK, JP
    RAMSAY, RR
    SHERRATT, HSA
    TURNBULL, DM
    FEBS LETTERS, 1988, 241 (1-2) : 126 - 130
  • [9] A reversible carnitine palmitoyltransferase (CPT1) inhibitor offsets the proliferation of chronic lymphocytic leukemia cells
    Gugiatti, Elena
    Tenca, Claudya
    Ravera, Silvia
    Fabbi, Marina
    Ghiotto, Fabio
    Mazzarello, Andrea N.
    Bagnara, Davide
    Reverberi, Daniele
    Zarcone, Daniela
    Cutrona, Giovanna
    Ibatici, Adalberto
    Ciccone, Ermanno
    Darzynkiewicz, Zbigniew
    Fais, Franco
    Bruno, Silvia
    HAEMATOLOGICA, 2018, 103 (11) : E531 - E536
  • [10] The regulation of carnitine palmitoyltransferase 1 (CPT1) mRNA splicing by nutrient availability in Drosophila fat tissue
    Truong, Huy G.
    Nagengast, Alexis A.
    Diangelo, Justin R.
    BIOCHEMISTRY AND BIOPHYSICS REPORTS, 2024, 38
12345