Molecular insights into the pathogenicity of variants associated with the aromatic amino acid decarboxylase deficiency

Epidemiology, molecular genetics, and new treatment options for aromatic amino acid decarboxylase deficiency

Journal of the Neurological Sciences ◽

10.1016/j.jns.2019.10.384 ◽

2019 ◽

Vol 405 ◽

pp. 89-90

Author(s):

N. Himmelreich ◽

R. Montioli ◽

M. Bertoldi ◽

C. Carducci ◽

V. Leuzzi ◽

...

Keyword(s):

Amino Acid ◽

Molecular Genetics ◽

Aromatic Amino Acid ◽

Treatment Options ◽

Acid Decarboxylase ◽

New Treatment ◽

A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2019.05.004 ◽

2019 ◽

Vol 127 (2) ◽

pp. 132-137 ◽

Cited By ~ 3

Author(s):

Riccardo Montioli ◽

Roberta Battini ◽

Alessandro Paiardini ◽

Manuela Tolve ◽

Mariarita Bertoldi ◽

...

Keyword(s):

Amino Acid ◽

Aromatic Amino Acid ◽

Clinical Aspects ◽

Acid Decarboxylase ◽

Compound Heterozygous ◽

Heterozygous Genotype ◽

Biochemical Studies ◽

Human DOPA Decarboxylase: Catalysis and Involvement in Pharmacological Treatments for Parkinson’s Disease and Aromatic Amino Acid Decarboxylase Deficiency

Pharmaceutical Biocatalysis ◽

10.1201/9781003045397-3 ◽

2020 ◽

pp. 83-100

Author(s):

Mariarita Bertoldi ◽

Giada Rossignoli

Keyword(s):

Parkinson’S Disease ◽

Parkinson's Disease ◽

Amino Acid ◽

Aromatic Amino Acid ◽

Dopa Decarboxylase ◽

Acid Decarboxylase ◽

Pharmacological Treatments ◽

Heterozygosis in aromatic amino acid decarboxylase deficiency: Evidence for a positive interallelic complementation between R347Q and R358H mutations

IUBMB Life ◽

10.1002/iub.1718 ◽

2018 ◽

Vol 70 (3) ◽

pp. 215-223 ◽

Cited By ~ 5

Author(s):

Riccardo Montioli ◽

Giacomo Janson ◽

Alessandro Paiardini ◽

Mariarita Bertoldi ◽

Carla Borri Voltattorni

Keyword(s):

Amino Acid ◽

Aromatic Amino Acid ◽

Acid Decarboxylase ◽

Interallelic Complementation ◽

Aromatic Amino Acid Decarboxylase Deficiency

Encyclopedia of Movement Disorders ◽

10.1016/b978-0-12-374105-9.00301-4 ◽

2010 ◽

pp. 64-68

Author(s):

R. Pons

Keyword(s):

Amino Acid ◽

Aromatic Amino Acid ◽

Acid Decarboxylase ◽

A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications

Human Molecular Genetics ◽

10.1093/hmg/ddu266 ◽

2014 ◽

Vol 23 (20) ◽

pp. 5429-5440 ◽

Cited By ~ 23

Author(s):

Riccardo Montioli ◽

Mirco Dindo ◽

Alejandro Giorgetti ◽

Stefano Piccoli ◽

Barbara Cellini ◽

...

Keyword(s):

Amino Acid ◽

Aromatic Amino Acid ◽

Molecular Mechanisms ◽

Acid Decarboxylase ◽

Comprehensive Picture ◽

Corrigendum to “Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook” [Mol Genet Metab. 2019 May;127(1):12–22]

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2021.06.010 ◽

2021 ◽

Author(s):

Nastassja Himmelreich ◽

Riccardo Montioli ◽

Mariarita Bertoldi ◽

Carla Carducci ◽

Vincenzo Leuzzi ◽

...

Keyword(s):

Amino Acid ◽

Aromatic Amino Acid ◽

Acid Decarboxylase ◽

Metabolic Basis ◽

S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine

Human Molecular Genetics ◽

10.1093/hmg/ddt011 ◽

2013 ◽

Vol 22 (8) ◽

pp. 1615-1624 ◽

Cited By ~ 18

Author(s):

Riccardo Montioli ◽

Elisa Oppici ◽

Barbara Cellini ◽

Alessandro Roncador ◽

Mirco Dindo ◽

...

Keyword(s):

Amino Acid ◽

Aromatic Amino Acid ◽

Acid Decarboxylase ◽

Molecular Defects ◽

Aromatic amino acid decarboxylase deficiency in twins

Journal of Inherited Metabolic Disease ◽

10.1007/bf01799380 ◽

1990 ◽

Vol 13 (3) ◽

pp. 301-304 ◽

Cited By ~ 61

Author(s):

K. Hyland ◽

P. T. Clayton

Keyword(s):

Amino Acid ◽

Aromatic Amino Acid ◽

Acid Decarboxylase ◽

Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2019.03.009 ◽

2019 ◽

Vol 127 (1) ◽

pp. 12-22 ◽

Cited By ~ 11

Author(s):

Nastassja Himmelreich ◽

Riccardo Montioli ◽

Mariarita Bertoldi ◽

Carla Carducci ◽

Vincenzo Leuzzi ◽

...

Keyword(s):

Amino Acid ◽

Aromatic Amino Acid ◽

Acid Decarboxylase ◽

Metabolic Basis ◽