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Search references for NGLY1. Phrases containing NGLY1
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Search references for NGLY1. Phrases containing NGLY1
See searches and references containing NGLY1!NGLY1
Protein-coding gene in the species Homo sapiens
amidase is an enzyme that in humans is encoded by the NGLY1 gene. PNGase is a de-N-glycosylating enzyme that removes N-linked or asparagine-linked
NGLY1
Medical condition
NGLY1 deficiency is a very rare genetic disorder caused by biallelic pathogenic variants in NGLY1. It is an autosomal recessive disorder. Errors in deglycosylation
NGLY1_deficiency
Organization for Rare Disorders. Might is the Chief Scientific Officer of the NGLY1 Foundation. Might's early work focused on cybersecurity. In recent years
Matt_Might
Medical condition
syndrome and NGLY1 deficiency. Alacrima can be formally diagnosed through a Schirmer's test.[citation needed] "NGLY1 Foundation". NGLY1 deficiency. Archived
Alacrima
Medical condition
first case of a congenital disorder of deglycosylation, NGLY1 deficiency. A 2014 study of NGLY1 deficient patients found similarities with traditional
Congenital disorder of glycosylation
Congenital_disorder_of_glycosylation
HGNC:7807; Q8N5V2 10503 NGF HGNC:7808; P01138 10504 NGFR HGNC:7809; P08138 10505 NGLY1 HGNC:17646; Q96IV0 10506 NGRN HGNC:18077; Q9NPE2 10507 NHEJ1 HGNC:25737;
List of human protein-coding genes 5
List_of_human_protein-coding_genes_5
American geneticist
of Childhood in collaboration with Erin Heinzen and others. Discovery of NGLY1 deficiency as a new syndrome in collaboration with Vandana Shashi, Anna
David B. Goldstein (geneticist)
David_B._Goldstein_(geneticist)
American chemist (born 1966)
the Grace Science Foundation in 2018. The foundation focuses on curing NGLY1 deficiency through developing therapeutics that are efficient and inexpensive
Carolyn_Bertozzi
on carbon-nitrogen bonds other than peptide bonds in linear amides. The NGLY1 gene encodes the ortholog of this enzyme in humans. The systematic name
Peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase
Peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine_amidase
NGLY1
NGLY1
NGLY1
NGLY1
Girl/Female
Indian, Tamil
Lovely; Kind-hearted
Boy/Male
Tamil
Vedatmane | வேதாதà¯à®®à®¨à¯‡
Spirit of the Vedas
Girl/Female
American, Australian, Chinese, Christian, French, German, Hebrew, Jamaican, Latin, Portuguese, Spanish, Swedish
Mercies; Grace; Ransom; Wages; Meditation Staff; Merciful
Girl/Female
Bengali, Gujarati, Hindu, Indian, Kannada, Marathi, Tamil, Telugu
Speaks Sweet Like Honey
Boy/Male
English
Black; White
Biblical
meditation; consideration
Surname or Lastname
English and Scottish
English and Scottish : from the Old English personal name Byrht, a byform of Be(o)rht ‘bright’. Compare Bert.German : Middle High German burt ‘that which is due or proper’, therefore a nickname for someone who has fulfilled his obligations properly.Jewish (from Poland and Ukraine) : variant of Burd.Richard Burt came from England
Girl/Female
English American Norse
Lives in the valley. Small valley. Surname.
Girl/Female
English
Piper.
Boy/Male
Hindu
The Moon
NGLY1
NGLY1
NGLY1
NGLY1
NGLY1