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Page 1
Current Clinical Applications of In Vivo Gene Therapy with AAVs.
Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, Goodspeed K, Gray SJ, Kay CN, Boye SL, Boye SE, George LA, Salabarria S, Corti M, Byrne BJ, Tremblay JP. Mendell JR, et al. Mol Ther. 2021 Feb 3;29(2):464-488. doi: 10.1016/j.ymthe.2020.12.007. Epub 2020 Dec 10. Mol Ther. 2021. PMID: 33309881 Free PMC article. Review.
We review gene therapy for neuromuscular disorders (spinal muscular atrophy [SMA]; Duchenne muscular dystrophy [DMD]; X-linked myotubular myopathy [XLMTM]; and diseases of the central nervous system, including Alzheimer's disease, Parkinson's disease, Canavan disease, aromatic …
We review gene therapy for neuromuscular disorders (spinal muscular atrophy [SMA]; Duchenne muscular dystrophy [DMD]; X-linked myotubular my …
Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review.
Rizzi S, Spagnoli C, Frattini D, Pisani F, Fusco C. Rizzi S, et al. Behav Neurol. 2022 Oct 11;2022:2210555. doi: 10.1155/2022/2210555. eCollection 2022. Behav Neurol. 2022. PMID: 36268467 Free PMC article. Review.
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare congenital autosomal recessive metabolic disorder caused by pathogenic homozygous or compound heterozygous variants in the dopa decarboxylase (DDC) gene. ...By analysi …
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare congenital autosomal recessive met …
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Wassenberg T, Molero-Luis M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M, Opladen T. Wassenberg T, et al. Orphanet J Rare Dis. 2017 Jan 18;12(1):12. doi: 10.1186/s13023-016-0522-z. Orphanet J Rare Dis. 2017. PMID: 28100251 Free PMC article. Review.
Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. ...
Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabol …
Neuromelanin in Parkinson's Disease: Tyrosine Hydroxylase and Tyrosinase.
Nagatsu T, Nakashima A, Watanabe H, Ito S, Wakamatsu K. Nagatsu T, et al. Int J Mol Sci. 2022 Apr 10;23(8):4176. doi: 10.3390/ijms23084176. Int J Mol Sci. 2022. PMID: 35456994 Free PMC article. Review.
The main symptoms of PD are movement disorders accompanied with deficiency of neurotransmitter dopamine (DA) in the striatum due to cell death of the nigrostriatal DA neurons. ...The synthesis of human NM is regarded to be similar to that of melanin in melanocytes; melanin …
The main symptoms of PD are movement disorders accompanied with deficiency of neurotransmitter dopamine (DA) in the striatum due to c …
Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry.
Montioli R, Borri Voltattorni C. Montioli R, et al. Int J Mol Sci. 2021 Mar 19;22(6):3146. doi: 10.3390/ijms22063146. Int J Mol Sci. 2021. PMID: 33808712 Free PMC article. Review.
Aromatic amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive neurometabolic disorder caused by mutations in the DDC gene, leading to a deficit of AADC, a pyridoxal 5'-phosphate requiring enzyme that catalyzes the decarboxyl …
Aromatic amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive neurometabolic disorde …
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. Himmelreich N, et al. Mol Genet Metab. 2019 May;127(1):12-22. doi: 10.1016/j.ymgme.2019.03.009. Epub 2019 Mar 27. Mol Genet Metab. 2019. PMID: 30952622 Review.
Aromatic-l-amino acid decarboxylase (AADC) deficiency is an ultra-rare inherited autosomal recessive disorder characterized by sharply reduced synthesis of dopamine as well as other neurotransmitters. ...A total of 82 dopa decarboxylas …
Aromatic-l-amino acid decarboxylase (AADC) deficiency is an ultra-rare inherited autosomal recessi …
A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan.
Lee NC, Chien YH, Hwu WL. Lee NC, et al. Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):226-229. doi: 10.1002/ajmg.c.31670. Epub 2019 Jan 7. Am J Med Genet C Semin Med Genet. 2019. PMID: 30614627 Review.
Aromatic l-amino acid decarboxylase deficiency (AADCD) is a rare inherited disease prevalent in South East Asia. ...
Aromatic l-amino acid decarboxylase deficiency (AADCD) is a rare inherited disease prevalent in So …
AAV vectors applied to the treatment of CNS disorders: Clinical status and challenges.
Kang L, Jin S, Wang J, Lv Z, Xin C, Tan C, Zhao M, Wang L, Liu J. Kang L, et al. J Control Release. 2023 Mar;355:458-473. doi: 10.1016/j.jconrel.2023.01.067. Epub 2023 Feb 13. J Control Release. 2023. PMID: 36736907 Free article. Review.
Currently, three of the four commercially available AAV-based drugs focus on neurological disorders, including Upstaza for aromatic l-amino acid decarboxylase deficiency, Luxturna for hereditary retinal dystrophy, and Zolgensma for spinal …
Currently, three of the four commercially available AAV-based drugs focus on neurological disorders, including Upstaza for aromatic …
Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus.
Fusco C, Leuzzi V, Striano P, Battini R, Burlina A; Delphi panel experts’ group; Spagnoli C. Fusco C, et al. Ital J Pediatr. 2021 Jan 21;47(1):13. doi: 10.1186/s13052-021-00954-4. Ital J Pediatr. 2021. PMID: 33478565 Free PMC article.
BACKGROUND: Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare and underdiagnosed neurometabolic disorder resulting in a complex neurological and non-neurological phenotype, posing diagnostic challenges resulting in diagnosti …
BACKGROUND: Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare and underdiagnosed neu …
Burden and severity of disease of aromatic L-amino acid decarboxylase deficiency: a systematic literature review.
Buesch K, Zhang R, Szczepańska K, Veličković V, Turner L, Despotović M, Đorđević B, Russell A. Buesch K, et al. Curr Med Res Opin. 2022 Nov;38(11):1871-1882. doi: 10.1080/03007995.2022.2072090. Epub 2022 May 18. Curr Med Res Opin. 2022. PMID: 35485958 Review.
OBJECTIVE: The objective was to investigate the severity of aromatic L-amino acid decarboxylase deficiency (AADCd) as reported in the published literature and to collate evidence of the clinical manifestations of AADCd, and the impact of …
OBJECTIVE: The objective was to investigate the severity of aromatic L-amino acid decarboxylase defici …
43 results