Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy | Zendy

Lien Van Eyck | Zendy; Francesco Bruni | Zendy; Anne Ronan | Zendy; Tracy A. Briggs | Zendy; Tony Roscioli | Zendy; Gillian Rice | Zendy; Grace Vassallo | Zendy; Mathieu P. Rodero | Zendy; Langping He | Zendy; Robert W. Taylor | Zendy; John H. Livingston | Zendy; Zofia M. A. Chrzanowska-Lightowlers | Zendy; Yanick J. Crow | Zendy

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Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy

Author(s) -

Lien Van Eyck,

Francesco Bruni,

Anne Ronan,

Tracy A. Briggs,

Tony Roscioli,

Gillian Rice,

Grace Vassallo,

Mathieu P. Rodero,

Langping He,

Robert W. Taylor,

John H. Livingston,

Zofia M. A. Chrzanowska-Lightowlers,

Yanick J. Crow

Publication year - 2019

Publication title -

neuropediatrics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.656

H-Index - 67

eISSN - 1439-1899

pISSN - 0174-304X

DOI - 10.1055/s-0039-3400979

Subject(s) - missense mutation , compound heterozygosity , genetics , mitochondrial dna , ataxia , sanger sequencing , biology , mitochondrial disease , mutation , encephalopathy , gene , medicine , microbiology and biotechnology , neuroscience

A homozygous founder mutation in MTPAP / TENT6 , encoding mitochondrial poly(A) polymerase (MTPAP), was first reported in six individuals of Old Order Amish descent demonstrating an early-onset, progressive spastic ataxia with optic atrophy and learning difficulties. MTPAP contributes to the regulation of mitochondrial gene expression through the polyadenylation of mitochondrially encoded mRNAs. Mitochondrial mRNAs with severely truncated poly(A) tails were observed in affected individuals, and mitochondrial protein expression was altered.

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