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M

Mariarita Bertoldi

university of verona
H指数:27
被引数:2,659

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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
Philipp Trolese; Giovanni Bisello; Cristian Andres Carmona Carmona; Giulia Spagnoli; Alberto Benetollo; Doriana Sandonà; Laura Acquasaliente; Patrizia Polverino de Laureto; Mariarita Bertoldi
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency

酪氨酸羟化酶（TH）缺乏症的诊断与治疗共识指南

Journal of Inherited Metabolic Disease
IF3.8
2025-11-100
OAAI
Mariya Sigatullina Bondarenko; Oya Kuseyri Hübschmann; Jan Kulhánek; Roser Pons; Toni S. Pearson; Kathrin Jeltsch; Ivana Badnjarevic; Tessa Wassenberg; Gabriella Horvath; Galina Stevanovic; Manju A. Kurian; Elisenda Cortès-Saladelafont; Agathe Roubertie; Vincenzo Leuzzi; Mariarita Bertoldi; Mario Mastrangelo; Birgit Assmann; THD Guidelines Working Group; Angeles Garcia-Cazorla; Thomas Opladen
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
Baine, JM; Duhoo, Y; Doukov, T; Desfosses, A; Bisello, G; Beio, ML; Bauer, O; Perduca, M; Bacia-Verloop, M; Bertoldi, M; Phillips, RS; Gutsche, I; Berkowitz, DB
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency
MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-05-015
PRE
Latzer, Itay Tokatly; Bertoldi, Mariarita; Blau, Nenad; DiBacco, Melissa L.; Elsea, Sarah H.; Garcia-Cazorla, Angels; Gibson, K. Michael; Gropman, Andrea L.; Hanson, Ellen; Hoffman, Carolyn; Jeltsch, Kathrin; Julia-Palacios, Natalia; Knerr, Ina; Lee, Henry H. C.; Malaspina, Patrizia; McConnell, Alice; Opladen, Thomas; Oppeboen, Mari; Rotenberg, Alexander; Walterfang, Mark; Wang-Tso, Lee; Wevers, Ron A.; Roullet, Jean-Baptiste; Pearl, Phillip L.
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder
JOURNAL OF NEURODEVELOPMENTAL DISORDERS
IF4
2024-04-244
OAAI
Tokatly Latzer, Itay; Roullet, Jean-Baptiste; Afshar-Saber, Wardiya; Lee, Henry H. C.; Bertoldi, Mariarita; McGinty, Gabrielle E.; DiBacco, Melissa L.; Arning, Erland; Tsuboyama, Melissa; Rotenberg, Alexander; Opladen, Thomas; Jeltsch, Kathrin; Garcia-Cazorla, Angels; Julia-Palacios, Natalia; Gibson, K. Michael; Sahin, Mustafa; Pearl, Phillip L.
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
The presence and severity of epilepsy coincide with reduced γ-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency
EPILEPSIA
IF6.6
2023-04-0415
OA
Latzer, Itay Tokatly; Bertoldi, Mariarita; DiBacco, Melissa L. L.; Arning, Erland; Tsuboyama, Melissa; MacMullin, Paul; Sachee, Daniyal; Rotenberg, Alexander; Lee, Henry H. C.; Aygun, Deniz; Opladen, Thomas; Jeltsch, Kathrin; Garcia-Cazorla, Angels; Roullet, Jean-Baptiste; Gibson, K. Michael; Pearl, Phillip L. L.

研究方向

暂未获取到该数据
C
Carla Borri Voltattorni
H 指数:30论文数:135被引数:2,970
T
Thomas Opladen
H 指数:34论文数:167被引数:3,954
G
Giovanni Bisello
H 指数:10论文数:30被引数:301
P
Phillip L. Pearl
H 指数:51论文数:420被引数:8,757
B
Barbara Cellini
H 指数:32论文数:144被引数:3,064
R
Riccardo Montioli
H 指数:23论文数:69被引数:1,584
K
Kathrin Jeltsch
H 指数:16论文数:70被引数:1,130
A
Alessandro Paiardini
H 指数:39论文数:172被引数:4,887
À
Àngels García‐Cazorla
H 指数:40论文数:673被引数:6,557
A
Alexander Rotenberg
H 指数:56论文数:305被引数:1.5万