Giovanni Bisello

university of verona

H指数:10

被引数:301

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Structural and functional insights into aromatic amino acid decarboxylase deficiency variants producing an α-synuclein-targeting L-Dopa–pyridoxal 5′-phosphate cyclic adduct

芳香族氨基酸脱羧酶缺乏变体产生α-突触核蛋白靶向的L-多巴-吡哆醛5′-磷酸环加合物的结构与功能见解

International Journal of Biological Macromolecules

IF8.5

2026-08-070

OAAI

The CRISPR-Cas9 knockout DDC SH-SY5Y in vitro model for AADC deficiency provides insight into the pathogenicity of R347Q and L353P variants: a cross-sectional structural and functional analysis

CRISPR-Cas9基因敲除DDC的SH-SY5Y体外模型为AADC缺乏症提供了关于R347Q和L353P变异体致病性的见解：一项横断面结构和功能分析

FEBS JOURNAL

IF4.2

2025-05-030

OAAI

α-Hydrazino Acids Inhibit Pyridoxal Phosphate-Dependent Decarboxylases via Catalytically Correct Ketoenamine Tautomers: A Special Motif for Chemical Biology and Drug Discovery?

α-肼基酸通过催化活性正确的酮烯胺互变异构体抑制吡哆醛磷酸依赖性脱羧酶：一个特殊的化学生物学和药物发现基序？

ACS CATALYSIS

IF13.1

2025-05-020

PRE

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes (vol 139, 107624, 2023)

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-08-011

OAAI

Himmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A.; Ben Zeev, Bruria; Bisello, Giovanni; Ceylan, Ahmet Cevdet; Chien, Yin-Hsiu; Choy, Yew Sing; Elsea, Sarah H.; Flint, Lisa; Garcia-Cazorla, Angels; Gijavanekar, Charul; Gumus, Emel Yilmaz; Hamad, Muddathir H.; Hismi, Burcu; Honzik, Tomas; Hubschmann, Oya Kuseyri; Hwu, Wuh-Liang; Ibanez-Mico, Salvador; Jeltsch, Kathrin; Julia-Palacios, Natalia; Kasapkara, Cigdem Seher; Kurian, Manju A.; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock Hock; Odom, John D.; Ong, Winnie Peitee; Opladen, Thomas; Oppeboen, Mari; Pearl, Phillip L.; Perez, Belen; Pons, Roser; Rygiel, Agnieszka Magdalena; Shien, Tan Ee; Spaull, Robert; Sykut-Cegielska, Jolanta; Tabarki, Brahim; Tangeraas, Trine; Thony, Beat; Wassenberg, Tessa; Wen, Yongxin; Yakob, Yusnita; Yin, Jasmine Goh Chew; Zeman, Jiri; Blau, Nenad

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-07-0111

OAAI

Himmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A.; Ben Zeev, Bruria; Bisello, Giovanni; Ceylan, Ahmet Cevdet; Chien, Yin-Hsiu; Choy, Yew Sing; Elsea, Sarah H.; Flint, Lisa; Garcia-Cazorla, Angels; Gijavanekar, Charul; Guemues, Emel Yilmaz; Hamad, Muddathir H.; Hismi, Burcu; Honzik, Tomas; Huebschmann, Oya Kuseyri; Hwu, Wuh-Liang; Ibanez-Mico, Salvador; Jeltsch, Kathrin; Julia-Palacios, Natalia; Kasapkara, Cigdem Seher; Kurian, Manju A.; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock Hock; Odom, John D.; Ong, Winnie Peitee; Opladen, Thomas; Oppeboen, Mari; Pearl, Phillip L.; Perez, Belen; Pons, Roser; Rygiel, Agnieszka Magdalena; Shien, Tan Ee; Spaull, Robert; Sykut-Cegielska, Jolanta; Tabarki, Brahim; Tangeraas, Trine; Thoeny, Beat; Wassenberg, Tessa; Wen, Yongxin; Yakob, Yusnita; Yin, Jasmine Goh Chew; Zeman, Jiri; Blau, Nenad

PREVALENCE OF DDC VARIANTS AND GENOTYPES IN PATIENTS WITH L-AROMATIC AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-03-010

PRE

The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role

CELLULAR AND MOLECULAR LIFE SCIENCES

IF6.2

2022-05-208

OAAI

Compound heterozygosis in MDC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric MDC proteins

MOLECULAR GENETICS AND METABOLISM