BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

178 related articles for article (PubMed ID: 34479793)

  • 1. Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins.
    Longo C; Montioli R; Bisello G; Palazzi L; Mastrangelo M; Brennenstuhl H; de Laureto PP; Opladen T; Leuzzi V; Bertoldi M
    Mol Genet Metab; 2021; 134(1-2):147-155. PubMed ID: 34479793
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Heterozygosis in aromatic amino acid decarboxylase deficiency: Evidence for a positive interallelic complementation between R347Q and R358H mutations.
    Montioli R; Janson G; Paiardini A; Bertoldi M; Borri Voltattorni C
    IUBMB Life; 2018 Mar; 70(3):215-223. PubMed ID: 29356298
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Compound Heterozygosis in AADC Deficiency and Its Complex Phenotype in Terms of AADC Protein Population.
    Bisello G; Bertoldi M
    Int J Mol Sci; 2022 Sep; 23(19):. PubMed ID: 36232540
    [TBL] [Abstract][Full Text] [Related]  

  • 4. New variants of AADC deficiency expand the knowledge of enzymatic phenotypes.
    Montioli R; Bisello G; Dindo M; Rossignoli G; Voltattorni CB; Bertoldi M
    Arch Biochem Biophys; 2020 Mar; 682():108263. PubMed ID: 31953134
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies.
    Montioli R; Battini R; Paiardini A; Tolve M; Bertoldi M; Carducci C; Leuzzi V; Borri Voltattorni C
    Mol Genet Metab; 2019 Jun; 127(2):132-137. PubMed ID: 31104889
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry.
    Montioli R; Borri Voltattorni C
    Int J Mol Sci; 2021 Mar; 22(6):. PubMed ID: 33808712
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations.
    Hyland K; Reott M
    Pediatr Neurol; 2020 May; 106():38-42. PubMed ID: 32111562
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency.
    Brennenstuhl H; Garbade SF; Okun JG; Feyh P; Hoffmann GF; Langhans CD; Opladen T
    Mol Genet Metab; 2020; 131(1-2):163-170. PubMed ID: 32675002
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular insights into the pathogenicity of variants associated with the aromatic amino acid decarboxylase deficiency.
    Montioli R; Cellini B; Borri Voltattorni C
    J Inherit Metab Dis; 2011 Dec; 34(6):1213-24. PubMed ID: 21541720
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype.
    Hasegawa Y; Nishi E; Mishima Y; Sakaguchi T; Sekiguchi F; Miyake N; Kojima K; Osaka H; Matsumoto N; Okamoto N
    Brain Dev; 2021 Nov; 43(10):1023-1028. PubMed ID: 34481663
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency.
    Caine C; Shohat M; Kim JK; Nakanishi K; Homma S; Mosharov EV; Monani UR
    Hum Mol Genet; 2017 Nov; 26(22):4406-4415. PubMed ID: 28973165
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.
    Himmelreich N; Montioli R; Bertoldi M; Carducci C; Leuzzi V; Gemperle C; Berner T; Hyland K; Thöny B; Hoffmann GF; Voltattorni CB; Blau N
    Mol Genet Metab; 2019 May; 127(1):12-22. PubMed ID: 30952622
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
    Himmelreich N; Bertoldi M; Alfadhel M; Alghamdi MA; Anikster Y; Bao X; Bashiri FA; Zeev BB; Bisello G; Ceylan AC; Chien YH; Choy YS; Elsea SH; Flint L; García-Cazorla À; Gijavanekar C; Gümüş EY; Hamad MH; Hişmi B; Honzik T; Hübschmann OK; Hwu WL; Ibáñez-Micó S; Jeltsch K; Juliá-Palacios N; Kasapkara ÇS; Kurian MA; Kusmierska K; Liu N; Ngu LH; Odom JD; Ong WP; Opladen T; Oppeboen M; Pearl PL; Pérez B; Pons R; Rygiel AM; Shien TE; Spaull R; Sykut-Cegielska J; Tabarki B; Tangeraas T; Thöny B; Wassenberg T; Wen Y; Yakob Y; Yin JGC; Zeman J; Blau N
    Mol Genet Metab; 2023 Jul; 139(3):107624. PubMed ID: 37348148
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.
    Bisello G; Kusmierska K; Verbeek MM; Sykut-Cegielska J; Willemsen MAAP; Wevers RA; Szymańska K; Poznanski J; Drozak J; Wertheim-Tysarowska K; Rygiel AM; Bertoldi M
    Cell Mol Life Sci; 2022 May; 79(6):305. PubMed ID: 35593933
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Human aromatic amino acid decarboxylase is an asymmetric and flexible enzyme: Implication in aromatic amino acid decarboxylase deficiency.
    Bisello G; Ribeiro RP; Perduca M; Belviso BD; Polverino De' Laureto P; Giorgetti A; Caliandro R; Bertoldi M
    Protein Sci; 2023 Aug; 32(8):e4732. PubMed ID: 37466248
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency.
    Chien YH; Chen PW; Lee NC; Hsieh WS; Chiu PC; Hwu WL; Tsai FJ; Lin SP; Chu SY; Jong YJ; Chao MC
    Mol Genet Metab; 2016 Aug; 118(4):259-63. PubMed ID: 27216367
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications.
    Montioli R; Dindo M; Giorgetti A; Piccoli S; Cellini B; Voltattorni CB
    Hum Mol Genet; 2014 Oct; 23(20):5429-40. PubMed ID: 24865461
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience.
    Burlina A; Giuliani A; Polo G; Gueraldi D; Gragnaniello V; Cazzorla C; Opladen T; Hoffmann G; Blau N; Burlina AP
    Mol Genet Metab; 2021 May; 133(1):56-62. PubMed ID: 33744095
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Clinical and genetic analysis of two pedigrees affected with aromatic L-amino acid decarboxylase deficiency].
    Wang Y; Ke Z; Zou H; Lin M; Qiu M; Gu W; Chen Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Nov; 36(11):1085-1089. PubMed ID: 31703131
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disorders.
    Riva A; Iacomino M; Piccardo C; Franceschetti L; Franchini R; Baroni A; Minetti C; Bisello G; Zara F; Scala M; Striano P; Bertoldi M
    Biochem Biophys Res Commun; 2023 Sep; 673():131-136. PubMed ID: 37385007
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.