Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5

25 Apr 2015

Abstract excerpt

We studied a recessive, progressive neurodegenerative disease occurring in Golden Retriever siblings with an onset of signs at 15 months of age. As the disease progressed these signs included ataxia, anxiety, pacing and circling, tremors, aggression, visual impairment and localized and generalized seizures. A whole genome sequence, generated with DNA from one affected dog, contained a plausibly causal homozygous...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Glycosylation and Glycoproteins Research
Share to Lysosomal Storage Disorders Research
Share to Neurological diseases and metabolism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 25934231
DOI: 10.1016/j.ymgme.2015.04.001

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5PMID 25934231Read ↗

Neuronal Ceroid Lipofuscinosis in a Mixed Breed Dog with a Splice Site Variant in CLN6Semantic proximity Read ↗

Neuronal Ceroid Lipofuscinosis in a Mixed-Breed Dog with a Splice Site Variant in CLN6.Semantic proximity Read ↗

Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies.Semantic proximity Read ↗

A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestrySemantic proximity Read ↗

A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis.Semantic proximity Read ↗

A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosisSemantic proximity Read ↗

Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene.Semantic proximity Read ↗

Visual system pathology in a canine model of CLN5 neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog.Semantic proximity Read ↗

A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs☆Semantic proximity Read ↗

A Missense Mutation in Canine <i>CLN6</i> in an Australian Shepherd with Neuronal Ceroid LipofuscinosisSemantic proximity Read ↗

Neuronal Ceroid Lipofuscinosis-Like Disorder in a Dachshund with Sequence Variants in Lysosome-Related GenesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.