Roles of the N-terminal motif in improving the activity and soluble expression of phenylalanine ammonia lyases in Escherichia coli
In this study, we aligned the amino acid sequences of AvPAL and PAL derived from Nostoc punctiforme (NpPAL) to obtain several mutants with enhanced activity, expression yield, and thermal stability via amino acid substitution and saturation mutagenesis at the N-terminal position. Enzyme kinetic experiments revealed that the kcat values of NpPAL-N2K, NpPAL-I3T, and NpPAL-T4L mutants were increased to 3.2-, 2.8-, and 3.3-fold that of the wild-type, respectively. Saturation mutagenesis of the fourth amino acid in AvPAL revealed that the kcat values of AvPAL-L4N, AvPAL-L4P, AvPAL-L4Q and AvPAL-L4S increased to 4.0-, 3.7-, 3.6-...
Source: International Journal of Biological Macromolecules - February 17, 2024 Category: Biochemistry Authors: Shuai Fan Xiyu Wei Ruijie L ü Cuiyue Feng Qian Zhang Xudong L ü Yuanyuan Jin Maocai Yan Zhaoyong Yang Source Type: research
The investigation of serum phenylalanine levels based on infant feeding method: a cross-sectional study of children less than two years old with phenylketonuria (PKU)
Clinical advice may suggest discontinuing breastfeeding after the diagnosis of phenylketonuria in infants as the only effective way to monitor the newborn's intake and accurate measurement of phenylalanine (Ph... (Source: International Breastfeeding Journal)
Source: International Breastfeeding Journal - February 13, 2024 Category: Nursing Authors: Zaniar Mohammadzadeh, Loghman Sharifi, Asadolah Fatholahpour and Elham Bazshahi Tags: Research Source Type: research
Recent trends in targeted delivery of smart nanocarrier-based microbial enzymes for therapeutic applications
Drug Discov Today. 2024 Feb 8:103915. doi: 10.1016/j.drudis.2024.103915. Online ahead of print.ABSTRACTSmart carrier-based immobilization has widened the use of enzymes for the treatment of several disorders. Large surface areas, tunable morphology, and surface modification ability aid the targeted and controlled release of therapeutic enzymes from such formulations. Smart nanocarriers, such as polymeric carriers, liposomes, and silica have also increased the stability, half-life, and permeability of these enzymes. In this review, summarize recent advances in the smart immobilization of microbial enzymes and their developm...
Source: Drug Discovery Today - February 10, 2024 Category: Drugs & Pharmacology Authors: Nikita Jangra Anubhuti Kawatra Bharti Datten Shefali Gupta Pooja Gulati Source Type: research
An unusual case of trisomy 8 mosaicism complicated by coexistence of phenylketonuria
Clin Chim Acta. 2024 Feb 8;555:117794. doi: 10.1016/j.cca.2024.117794. Online ahead of print.ABSTRACTTrisomy 8 syndrome, also known as " Warkany syndrome type 2 ", was first reported in 1971. Complete trisomy 8 are mostly aborted spontaneouslyinthe first trimester. Trisomy 8 mosaicism (T8M), predominated in the current cases reported. Itisahighlyheterogeneous Chromosome disorder. We know little about its effects on fertility. In this case, a patient with T8M combined with phenylketonuria was diagnosed. She's mentally retarded. After evaluating the anatomy and function of the reproductive system, the patient conceived throu...
Source: International Journal of Clinical Chemistry - February 10, 2024 Category: Chemistry Authors: Yanan Wang Lina Hu Yuqiong Chai Xiaofei Liu Source Type: research
Recent trends in targeted delivery of smart nanocarrier-based microbial enzymes for therapeutic applications
Drug Discov Today. 2024 Feb 8:103915. doi: 10.1016/j.drudis.2024.103915. Online ahead of print.ABSTRACTSmart carrier-based immobilization has widened the use of enzymes for the treatment of several disorders. Large surface areas, tunable morphology, and surface modification ability aid the targeted and controlled release of therapeutic enzymes from such formulations. Smart nanocarriers, such as polymeric carriers, liposomes, and silica have also increased the stability, half-life, and permeability of these enzymes. In this review, summarize recent advances in the smart immobilization of microbial enzymes and their developm...
Source: Drug Discovery Today - February 10, 2024 Category: Drugs & Pharmacology Authors: Nikita Jangra Anubhuti Kawatra Bharti Datten Shefali Gupta Pooja Gulati Source Type: research
The relationship between working memory and anxiety in individuals with early treated phenylketonuria (PKU).
Neuropsychology, Vol 38(4), May 2024, 368-378; doi:10.1037/neu0000942Objective: Although early diagnosis and treatment prevent the severe impairments associated with untreated phenylketonuria (PKU), individuals with early treated PKU (ETPKU) nonetheless experience significant neurocognitive and psychological sequelae, including difficulties in working memory (WM) and increased risk of anxiety. The primary objective of the present study was to examine the extent to which anxiety may moderate the relationship between ETPKU and WM performance. Method: A sample of 40 adults with ETPKU and a demographically comparable sample of...
Source: Neuropsychology - February 1, 2024 Category: Neurology Source Type: research
Genes, Vol. 15, Pages 134: Aromatic L-Amino Acid Decarboxylase Deficiency: A Genetic Screening in Sicilian Patients with Neurological Disorders
a
Carmela Scuderi
Aromatic L-amino acid decarboxylase deficiency (AADCd) is a rare autosomal recessive neurometabolic disorder caused by AADC deficiency, an enzyme encoded by the DDC gene. Since the enzyme is involved in the biosynthesis of serotonin and dopamine, its deficiency determines the lack of these neurotransmitters, but also of norepinephrine and epinephrine. Onset is early and the key signs are hypotonia, movement disorders (oculogyric crises, dystonia and hypokinesia), developmental delay and autonomic dysfunction. Taiwan is the site of a potential founder variant (IVS6+4A>T) with a predicted i...
Source: Genes - January 21, 2024 Category: Genetics & Stem Cells Authors: Sandro Santa Paola Francesco Domenico Di Blasi Eugenia Borgione Mariangela Lo Giudice Marika Giuliano Rosa Pettinato Vincenzo Di Stefano Filippo Brighina Antonino Lupica Carmela Scuderi Tags: Article Source Type: research
Relative Oral Bioavailability and Food Effects of Two Sepiapterin Formulations in Healthy Participants
This study characterized the pharmacokinetics, safety, and tolerability of 2 clinical sepiapterin formulations (Phase 1/2, Phase 3) and the effects of food on the pharmacokinetics of the Phase 3 formulation in healthy participants. In Part A, 18 participants were randomized to one of 2 treatment sequences, each with 4 dosing periods comprising a single dose (20 or 60 mg/kg) of the Phase 1/2 or the Phase 3 formulation with a low-fat diet. In Part B, 14 participants were randomized to one of 2 sequences, each comprising 4 dosing periods of a single dose (20 or 60 mg/kg) of the Phase 3 formulation under fed (high-fat) or f...
Source: Clinical Pharmacology in Drug Development - December 29, 2023 Category: Drugs & Pharmacology Authors: Lan Gao,
Diksha Kaushik,
Yi Xia,
Kimberly Ingalls,
Sarah Milner,
Neil Smith,
Ronald Kong Tags: Original Article Source Type: research
Preliminary analysis of oral and gut microbiome of an elderly patient with late-diagnosed phenylketonuria
Ann Agric Environ Med. 2023 Dec 22;30(4):779-782. doi: 10.26444/aaem/171916. Epub 2023 Sep 20.ABSTRACTPhenylketonuria (PKU) is a metabolic and genetic disorder caused by a phenylalanine hydroxylase (PAH) gene deficiency that raises Phe levels in organs. Dietary therapy involves an elimination diet and Phe-free items, which may alter microbiota. The study examined the oral and intestinal microbiomes of a 63-year-old PKU patient and a control man, living in rural areas. iSeq100 (Illumina) sequenced the stool and oral 16S rRNA gene V3-V4 region. PKU guts had more Firmicutes and fewer Bacteroidetes than control. Clostridia pre...
Source: Annals of Agricultural and Environmental Medicine : AAEM - December 28, 2023 Category: Environmental Health Authors: Ma łgorzata Ostrowska Elwira Komo ń-Janczara Agnieszka Vogt Pawe ł Glibowski Source Type: research
Preliminary analysis of oral and gut microbiome of an elderly patient with late-diagnosed phenylketonuria
Ann Agric Environ Med. 2023 Dec 22;30(4):779-782. doi: 10.26444/aaem/171916. Epub 2023 Sep 20.ABSTRACTPhenylketonuria (PKU) is a metabolic and genetic disorder caused by a phenylalanine hydroxylase (PAH) gene deficiency that raises Phe levels in organs. Dietary therapy involves an elimination diet and Phe-free items, which may alter microbiota. The study examined the oral and intestinal microbiomes of a 63-year-old PKU patient and a control man, living in rural areas. iSeq100 (Illumina) sequenced the stool and oral 16S rRNA gene V3-V4 region. PKU guts had more Firmicutes and fewer Bacteroidetes than control. Clostridia pre...
Source: Annals of Agricultural and Environmental Medicine : AAEM - December 28, 2023 Category: Environmental Health Authors: Ma łgorzata Ostrowska Elwira Komo ń-Janczara Agnieszka Vogt Pawe ł Glibowski Source Type: research
Preliminary analysis of oral and gut microbiome of an elderly patient with late-diagnosed phenylketonuria
Ann Agric Environ Med. 2023 Dec 22;30(4):779-782. doi: 10.26444/aaem/171916. Epub 2023 Sep 20.ABSTRACTPhenylketonuria (PKU) is a metabolic and genetic disorder caused by a phenylalanine hydroxylase (PAH) gene deficiency that raises Phe levels in organs. Dietary therapy involves an elimination diet and Phe-free items, which may alter microbiota. The study examined the oral and intestinal microbiomes of a 63-year-old PKU patient and a control man, living in rural areas. iSeq100 (Illumina) sequenced the stool and oral 16S rRNA gene V3-V4 region. PKU guts had more Firmicutes and fewer Bacteroidetes than control. Clostridia pre...
Source: Annals of Agricultural and Environmental Medicine : AAEM - December 28, 2023 Category: Environmental Health Authors: Ma łgorzata Ostrowska Elwira Komo ń-Janczara Agnieszka Vogt Pawe ł Glibowski Source Type: research
Preliminary analysis of oral and gut microbiome of an elderly patient with late-diagnosed phenylketonuria
Ann Agric Environ Med. 2023 Dec 22;30(4):779-782. doi: 10.26444/aaem/171916. Epub 2023 Sep 20.ABSTRACTPhenylketonuria (PKU) is a metabolic and genetic disorder caused by a phenylalanine hydroxylase (PAH) gene deficiency that raises Phe levels in organs. Dietary therapy involves an elimination diet and Phe-free items, which may alter microbiota. The study examined the oral and intestinal microbiomes of a 63-year-old PKU patient and a control man, living in rural areas. iSeq100 (Illumina) sequenced the stool and oral 16S rRNA gene V3-V4 region. PKU guts had more Firmicutes and fewer Bacteroidetes than control. Clostridia pre...
Source: Annals of Agricultural and Environmental Medicine : AAEM - December 28, 2023 Category: Environmental Health Authors: Ma łgorzata Ostrowska Elwira Komo ń-Janczara Agnieszka Vogt Pawe ł Glibowski Source Type: research
Preliminary analysis of oral and gut microbiome of an elderly patient with late-diagnosed phenylketonuria
Ann Agric Environ Med. 2023 Dec 22;30(4):779-782. doi: 10.26444/aaem/171916. Epub 2023 Sep 20.ABSTRACTPhenylketonuria (PKU) is a metabolic and genetic disorder caused by a phenylalanine hydroxylase (PAH) gene deficiency that raises Phe levels in organs. Dietary therapy involves an elimination diet and Phe-free items, which may alter microbiota. The study examined the oral and intestinal microbiomes of a 63-year-old PKU patient and a control man, living in rural areas. iSeq100 (Illumina) sequenced the stool and oral 16S rRNA gene V3-V4 region. PKU guts had more Firmicutes and fewer Bacteroidetes than control. Clostridia pre...
Source: Annals of Agricultural and Environmental Medicine : AAEM - December 28, 2023 Category: Environmental Health Authors: Ma łgorzata Ostrowska Elwira Komo ń-Janczara Agnieszka Vogt Pawe ł Glibowski Source Type: research
Preliminary analysis of oral and gut microbiome of an elderly patient with late-diagnosed phenylketonuria
Ann Agric Environ Med. 2023 Dec 22;30(4):779-782. doi: 10.26444/aaem/171916. Epub 2023 Sep 20.ABSTRACTPhenylketonuria (PKU) is a metabolic and genetic disorder caused by a phenylalanine hydroxylase (PAH) gene deficiency that raises Phe levels in organs. Dietary therapy involves an elimination diet and Phe-free items, which may alter microbiota. The study examined the oral and intestinal microbiomes of a 63-year-old PKU patient and a control man, living in rural areas. iSeq100 (Illumina) sequenced the stool and oral 16S rRNA gene V3-V4 region. PKU guts had more Firmicutes and fewer Bacteroidetes than control. Clostridia pre...
Source: Annals of Agricultural and Environmental Medicine : AAEM - December 28, 2023 Category: Environmental Health Authors: Ma łgorzata Ostrowska Elwira Komo ń-Janczara Agnieszka Vogt Pawe ł Glibowski Source Type: research
Preliminary analysis of oral and gut microbiome of an elderly patient with late-diagnosed phenylketonuria
Ann Agric Environ Med. 2023 Dec 22;30(4):779-782. doi: 10.26444/aaem/171916. Epub 2023 Sep 20.ABSTRACTPhenylketonuria (PKU) is a metabolic and genetic disorder caused by a phenylalanine hydroxylase (PAH) gene deficiency that raises Phe levels in organs. Dietary therapy involves an elimination diet and Phe-free items, which may alter microbiota. The study examined the oral and intestinal microbiomes of a 63-year-old PKU patient and a control man, living in rural areas. iSeq100 (Illumina) sequenced the stool and oral 16S rRNA gene V3-V4 region. PKU guts had more Firmicutes and fewer Bacteroidetes than control. Clostridia pre...
Source: Annals of Agricultural and Environmental Medicine : AAEM - December 28, 2023 Category: Environmental Health Authors: Ma łgorzata Ostrowska Elwira Komo ń-Janczara Agnieszka Vogt Pawe ł Glibowski Source Type: research
