Synaptic Dysfunction in Brain Disorders

Impaired synaptic plasticity in behaving mice by inactivation of presenilin and accumulation of the neurexin gamma-secretase proteolytic substrate

Analysis of neurexin-neuroligin complexes supports an isoform-specific role for beta-neurexin-1 dysfunction in a mouse model of autism

A Neuroligin-1 mutation associated with Alzheimer’s disease produces memory and age-dependent impairments in hippocampal plasticity

Selective expression of the neurexin substrate for presenilin in the adult forebrain causes deficits in associative memory and presynaptic plasticity

Non-productive angiogenesis disassembles Aß plaque-associated blood vessels

A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain.

Proteolytic Processing of Neurexins by Presenilins Sustains Synaptic Vesicle Release (1)

Cellular Mechanisms of Synaptopathies

Proteolytic Processing of Neurexins by Presenilins Sustains Synaptic Vesicle Release

Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia

A truncating mutation in Alzheimer's disease inactivates neuroligin-1 synaptic function.

Genetic study of NRXN1β variants in Spanish patients with schizophrenia.

Identification of distinct mutations in AAGAB in several families with type 1 punctate palmoplantar keratoderma

Mutation prevalence of cerebral cavernous malformation genes in Spanish patients

Neurexin Dysfunction in Adult Neurons Results in Autistic-like Behavior in Mice.

Genetic study of neurexin and neuroligin genes in Alzheimer´s disease

Rare variants analysis of neurexin-1 in autism reveals a novel start codon mutation affecting protein level at synapses

Clinical and molecular study of ECM1 in a Spanish family with lipoidprotenosis

Mutations affecting synaptic levels of neurexin-1β in autism and mental retardation.

Presenilin/γ-secretase regulates neurexin processing at synapses.

The H syndrome: two novel mutations affecting the same amino acid residue of hENT3.

Dual promoter lentiviral vectors for constitutive and regulated gene expression in neurons

Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.

A recurrent splice-site mutation in the human hairless gene underlies congenital atrichia in Irish families.

Atrichia with papular lesions resulting from novel compound heterozygous mutations in the human hairless gene.

Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areata.

Silencing of neuroligin function by postsynaptic neurexins

A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma.

Demystification of Chester porphyria: a nonsense mutation in the Porphobilinogen Deaminase gene.

Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase gene.

Characterization of human PA2.26 antigen (T1alpha-2, podoplanin), a small membrane mucin induced in oral squamous cell carcinomas

Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer.

Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata.

Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.

Identification of a novel splice site mutation in the human hairless gene underlying atrichia with papular lesions.

Identification of a recurrent mutation in the human hairless gene underlying atrichia with papular lesions.

Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa.

Novel compound heterozygous nonsense mutations in the hairless gene causing atrichia with papular lesions.

A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa.

A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis.

Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population.

De novo mutations in monilethrix.

A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma.

A recurrent mutation in the ARS (component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: evidence of a founder effect.

Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene.

Clinical and pathologic correlations in genetically distinct forms of atrichia.

Compound heterozygous mutations in the hairless gene in atrichia with papular lesions.

Congenital universal hypertrichosis with deafness and dental anomalies inherited as an X-linked trait.

Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.

Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata.

Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24.

The first non-LTR retrotransposon characterised in the cephalochordate amphioxus, BfCR1, shows similarities to CR1-like elements.