Two novel mutant human adenylosuccinate lyases (ASLs) associated with autism and characterization of the equivalent mutant Bacillus subtilis ASL (Q28286785)

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English	Two novel mutant human adenylosuccinate lyases (ASLs) associated with autism and characterization of the equivalent mutant Bacillus subtilis ASL	scientific article

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15471876%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Two novel mutant human adenylosuccinate lyases (ASLs) associated with autism and characterization of the equivalent mutant Bacillus subtilis ASL (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15471876%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

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Bacillus subtilis

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Sharmila Sivendran

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15471876%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

David Patterson

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15471876%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Erin Spiegel

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15471876%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Ivan McGown

4

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3 January 2020

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7 October 2004

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3 January 2020

Journal of Biological Chemistry

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15471876%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

279

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3 January 2020

51

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3 January 2020

53789-53797

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3 January 2020

Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M409974200

21 January 2018

Autism and adenylosuccinase deficiency.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M409974200

21 January 2018

Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M409974200

21 January 2018

Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M409974200

21 January 2018

Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M409974200

21 January 2018

Characterization of a mutant Bacillus subtilis adenylosuccinate lyase equivalent to a mutant enzyme found in human adenylosuccinate lyase deficiency: asparagine 276 plays an important structural role

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M409974200

21 January 2018

The characterization of mutant Bacillus subtilis adenylosuccinate lyases corresponding to severe human adenylosuccinate lyase deficiencies

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M409974200

21 January 2018

Identification of His141 in the active site of Bacillus subtilis adenylosuccinate lyase by affinity labeling with 6-(4-bromo-2,3-dioxobutyl)thioadenosine 5'-monophosphate

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M409974200

21 January 2018

His68 and His141 are critical contributors to the intersubunit catalytic site of adenylosuccinate lyase of Bacillus subtilis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M409974200

21 January 2018

A key role in catalysis for His89 of adenylosuccinate lyase of Bacillus subtilis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M409974200

21 January 2018

Three subunits contribute amino acids to the active site of tetrameric adenylosuccinate lyase: Lys268 and Glu275 are required

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M409974200

21 January 2018

Gln212, Asn270, and Arg301 are critical for catalysis by adenylosuccinate lyase from Bacillus subtilis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M409974200

21 January 2018

The structure of adenylosuccinate lyase, an enzyme with dual activity in the de novo purine biosynthetic pathway

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M409974200

21 January 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M409974200

21 January 2018

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M409974200

21 January 2018

Residual adenylosuccinase activities in fibroblasts of adenylosuccinase-deficient children: parallel deficiency with adenylosuccinate and succinyl-AICAR in profoundly retarded patients and non-parallel deficiency in a mildly retarded girl

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M409974200

21 January 2018

Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M409974200

21 January 2018

Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M409974200

21 January 2018

The amino-acid mutational spectrum of human genetic disease

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M409974200

21 January 2018

Understanding human disease mutations through the use of interspecific genetic variation

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M409974200

21 January 2018

AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M409974200

21 January 2018

Detection of 5'-phosphoribosyl-4-(N-succinylcarboxamide)-5-aminoimidazole in urine by use of the Bratton-Marshall reaction: identification of patients deficient in adenylosuccinate lyase activity

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M409974200

21 January 2018

Identifiers

10.1074/JBC.M409974200

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15471876%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15471876%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

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